Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene
Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavo...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Saini, Ashish [verfasserIn] |
|---|
| Format: |
E-Artikel |
|---|---|
| Sprache: |
Englisch |
| Erschienen: |
2022transfer abstract |
|---|
| Übergeordnetes Werk: |
Enthalten in: Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms - Sun, Li-Zhi ELSEVIER, 2014transfer abstract, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:64 ; year:2022 ; pages:0 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.ppedcard.2021.101443 |
|---|
| Katalog-ID: |
ELV056982933 |
|---|
| LEADER | 01000caa a22002652 4500 | ||
|---|---|---|---|
| 001 | ELV056982933 | ||
| 003 | DE-627 | ||
| 005 | 20230626044309.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 220808s2022 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.ppedcard.2021.101443 |2 doi | |
| 028 | 5 | 2 | |a /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica |
| 035 | |a (DE-627)ELV056982933 | ||
| 035 | |a (ELSEVIER)S1058-9813(21)00122-3 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 082 | 0 | 4 | |a 540 |q VZ |
| 082 | 0 | 4 | |a 530 |a 620 |q VZ |
| 084 | |a 52.56 |2 bkl | ||
| 100 | 1 | |a Saini, Ashish |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene |
| 264 | 1 | |c 2022transfer abstract | |
| 336 | |a nicht spezifiziert |b zzz |2 rdacontent | ||
| 337 | |a nicht spezifiziert |b z |2 rdamedia | ||
| 338 | |a nicht spezifiziert |b zu |2 rdacarrier | ||
| 520 | |a Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. | ||
| 520 | |a Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. | ||
| 700 | 1 | |a Almasarweh, Saleem |4 oth | |
| 700 | 1 | |a Acosta, Stephanie |4 oth | |
| 700 | 1 | |a Jayakar, Parul |4 oth | |
| 700 | 1 | |a Janvier, Michelin |4 oth | |
| 700 | 1 | |a Wong, Terence C. |4 oth | |
| 700 | 1 | |a Salyakina, Daria |4 oth | |
| 700 | 1 | |a Sasaki, Jun |4 oth | |
| 773 | 0 | 8 | |i Enthalten in |n Elsevier Science |a Sun, Li-Zhi ELSEVIER |t Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |d 2014transfer abstract |g Amsterdam [u.a.] |w (DE-627)ELV023068957 |
| 773 | 1 | 8 | |g volume:64 |g year:2022 |g pages:0 |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.ppedcard.2021.101443 |3 Volltext |
| 912 | |a GBV_USEFLAG_U | ||
| 912 | |a GBV_ELV | ||
| 912 | |a SYSFLAG_U | ||
| 912 | |a GBV_ILN_70 | ||
| 912 | |a GBV_ILN_72 | ||
| 936 | b | k | |a 52.56 |j Regenerative Energieformen |j alternative Energieformen |q VZ |
| 951 | |a AR | ||
| 952 | |d 64 |j 2022 |h 0 | ||
| author_variant |
a s as |
|---|---|
| matchkey_str |
sainiashishalmasarwehsaleemacostastephan:2022----:ydoimcohhli9oefaignmsqecnado |
| hierarchy_sort_str |
2022transfer abstract |
| bklnumber |
52.56 |
| publishDate |
2022 |
| allfields |
10.1016/j.ppedcard.2021.101443 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica (DE-627)ELV056982933 (ELSEVIER)S1058-9813(21)00122-3 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Saini, Ashish verfasserin aut Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Almasarweh, Saleem oth Acosta, Stephanie oth Jayakar, Parul oth Janvier, Michelin oth Wong, Terence C. oth Salyakina, Daria oth Sasaki, Jun oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:64 year:2022 pages:0 https://doi.org/10.1016/j.ppedcard.2021.101443 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 64 2022 0 |
| spelling |
10.1016/j.ppedcard.2021.101443 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica (DE-627)ELV056982933 (ELSEVIER)S1058-9813(21)00122-3 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Saini, Ashish verfasserin aut Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Almasarweh, Saleem oth Acosta, Stephanie oth Jayakar, Parul oth Janvier, Michelin oth Wong, Terence C. oth Salyakina, Daria oth Sasaki, Jun oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:64 year:2022 pages:0 https://doi.org/10.1016/j.ppedcard.2021.101443 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 64 2022 0 |
| allfields_unstemmed |
10.1016/j.ppedcard.2021.101443 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica (DE-627)ELV056982933 (ELSEVIER)S1058-9813(21)00122-3 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Saini, Ashish verfasserin aut Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Almasarweh, Saleem oth Acosta, Stephanie oth Jayakar, Parul oth Janvier, Michelin oth Wong, Terence C. oth Salyakina, Daria oth Sasaki, Jun oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:64 year:2022 pages:0 https://doi.org/10.1016/j.ppedcard.2021.101443 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 64 2022 0 |
| allfieldsGer |
10.1016/j.ppedcard.2021.101443 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica (DE-627)ELV056982933 (ELSEVIER)S1058-9813(21)00122-3 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Saini, Ashish verfasserin aut Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Almasarweh, Saleem oth Acosta, Stephanie oth Jayakar, Parul oth Janvier, Michelin oth Wong, Terence C. oth Salyakina, Daria oth Sasaki, Jun oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:64 year:2022 pages:0 https://doi.org/10.1016/j.ppedcard.2021.101443 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 64 2022 0 |
| allfieldsSound |
10.1016/j.ppedcard.2021.101443 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica (DE-627)ELV056982933 (ELSEVIER)S1058-9813(21)00122-3 DE-627 ger DE-627 rakwb eng 540 VZ 530 620 VZ 52.56 bkl Saini, Ashish verfasserin aut Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. Almasarweh, Saleem oth Acosta, Stephanie oth Jayakar, Parul oth Janvier, Michelin oth Wong, Terence C. oth Salyakina, Daria oth Sasaki, Jun oth Enthalten in Elsevier Science Sun, Li-Zhi ELSEVIER Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms 2014transfer abstract Amsterdam [u.a.] (DE-627)ELV023068957 volume:64 year:2022 pages:0 https://doi.org/10.1016/j.ppedcard.2021.101443 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 52.56 Regenerative Energieformen alternative Energieformen VZ AR 64 2022 0 |
| language |
English |
| source |
Enthalten in Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms Amsterdam [u.a.] volume:64 year:2022 pages:0 |
| sourceStr |
Enthalten in Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms Amsterdam [u.a.] volume:64 year:2022 pages:0 |
| format_phy_str_mv |
Article |
| bklname |
Regenerative Energieformen alternative Energieformen |
| institution |
findex.gbv.de |
| dewey-raw |
540 |
| isfreeaccess_bool |
false |
| container_title |
Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
| authorswithroles_txt_mv |
Saini, Ashish @@aut@@ Almasarweh, Saleem @@oth@@ Acosta, Stephanie @@oth@@ Jayakar, Parul @@oth@@ Janvier, Michelin @@oth@@ Wong, Terence C. @@oth@@ Salyakina, Daria @@oth@@ Sasaki, Jun @@oth@@ |
| publishDateDaySort_date |
2022-01-01T00:00:00Z |
| hierarchy_top_id |
ELV023068957 |
| dewey-sort |
3540 |
| id |
ELV056982933 |
| language_de |
englisch |
| fullrecord |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV056982933</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230626044309.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">220808s2022 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.ppedcard.2021.101443</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">/cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV056982933</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1058-9813(21)00122-3</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">530</subfield><subfield code="a">620</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">52.56</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Saini, Ashish</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022transfer abstract</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management.</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Almasarweh, Saleem</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Acosta, Stephanie</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Jayakar, Parul</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Janvier, Michelin</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wong, Terence C.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Salyakina, Daria</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sasaki, Jun</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier Science</subfield><subfield code="a">Sun, Li-Zhi ELSEVIER</subfield><subfield code="t">Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms</subfield><subfield code="d">2014transfer abstract</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV023068957</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:64</subfield><subfield code="g">year:2022</subfield><subfield code="g">pages:0</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.ppedcard.2021.101443</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_70</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_72</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">52.56</subfield><subfield code="j">Regenerative Energieformen</subfield><subfield code="j">alternative Energieformen</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">64</subfield><subfield code="j">2022</subfield><subfield code="h">0</subfield></datafield></record></collection>
|
| author |
Saini, Ashish |
| spellingShingle |
Saini, Ashish ddc 540 ddc 530 bkl 52.56 Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene |
| authorStr |
Saini, Ashish |
| ppnlink_with_tag_str_mv |
@@773@@(DE-627)ELV023068957 |
| format |
electronic Article |
| dewey-ones |
540 - Chemistry & allied sciences 530 - Physics 620 - Engineering & allied operations |
| delete_txt_mv |
keep |
| author_role |
aut |
| collection |
elsevier |
| remote_str |
true |
| illustrated |
Not Illustrated |
| topic_title |
540 VZ 530 620 VZ 52.56 bkl Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene |
| topic |
ddc 540 ddc 530 bkl 52.56 |
| topic_unstemmed |
ddc 540 ddc 530 bkl 52.56 |
| topic_browse |
ddc 540 ddc 530 bkl 52.56 |
| format_facet |
Elektronische Aufsätze Aufsätze Elektronische Ressource |
| format_main_str_mv |
Text Zeitschrift/Artikel |
| carriertype_str_mv |
zu |
| author2_variant |
s a sa s a sa p j pj m j mj t c w tc tcw d s ds j s js |
| hierarchy_parent_title |
Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
| hierarchy_parent_id |
ELV023068957 |
| dewey-tens |
540 - Chemistry 530 - Physics 620 - Engineering |
| hierarchy_top_title |
Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
| isfreeaccess_txt |
false |
| familylinks_str_mv |
(DE-627)ELV023068957 |
| title |
Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene |
| ctrlnum |
(DE-627)ELV056982933 (ELSEVIER)S1058-9813(21)00122-3 |
| title_full |
Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene |
| author_sort |
Saini, Ashish |
| journal |
Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
| journalStr |
Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms |
| lang_code |
eng |
| isOA_bool |
false |
| dewey-hundreds |
500 - Science 600 - Technology |
| recordtype |
marc |
| publishDateSort |
2022 |
| contenttype_str_mv |
zzz |
| container_start_page |
0 |
| author_browse |
Saini, Ashish |
| container_volume |
64 |
| class |
540 VZ 530 620 VZ 52.56 bkl |
| format_se |
Elektronische Aufsätze |
| author-letter |
Saini, Ashish |
| doi_str_mv |
10.1016/j.ppedcard.2021.101443 |
| dewey-full |
540 530 620 |
| title_sort |
syndromic microphthalmia 9: role of rapid genome sequencing and novel mutations in stra6 gene |
| title_auth |
Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene |
| abstract |
Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. |
| abstractGer |
Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. |
| abstract_unstemmed |
Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management. |
| collection_details |
GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_70 GBV_ILN_72 |
| title_short |
Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene |
| url |
https://doi.org/10.1016/j.ppedcard.2021.101443 |
| remote_bool |
true |
| author2 |
Almasarweh, Saleem Acosta, Stephanie Jayakar, Parul Janvier, Michelin Wong, Terence C. Salyakina, Daria Sasaki, Jun |
| author2Str |
Almasarweh, Saleem Acosta, Stephanie Jayakar, Parul Janvier, Michelin Wong, Terence C. Salyakina, Daria Sasaki, Jun |
| ppnlink |
ELV023068957 |
| mediatype_str_mv |
z |
| isOA_txt |
false |
| hochschulschrift_bool |
false |
| author2_role |
oth oth oth oth oth oth oth |
| doi_str |
10.1016/j.ppedcard.2021.101443 |
| up_date |
2024-07-06T21:57:05.332Z |
| _version_ |
1803868465092624384 |
| fullrecord_marcxml |
<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">ELV056982933</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230626044309.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">220808s2022 xx |||||o 00| ||eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1016/j.ppedcard.2021.101443</subfield><subfield code="2">doi</subfield></datafield><datafield tag="028" ind1="5" ind2="2"><subfield code="a">/cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001693.pica</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)ELV056982933</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(ELSEVIER)S1058-9813(21)00122-3</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">540</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="082" ind1="0" ind2="4"><subfield code="a">530</subfield><subfield code="a">620</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="084" ind1=" " ind2=" "><subfield code="a">52.56</subfield><subfield code="2">bkl</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Saini, Ashish</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Syndromic Microphthalmia 9: Role of rapid genome sequencing and novel mutations in STRA6 gene</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2022transfer abstract</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zzz</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">z</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">nicht spezifiziert</subfield><subfield code="b">zu</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management.</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Matthew Wood syndrome (MWS) or PDAC syndrome, or Syndromic Microphthalmia 9 (MCOPS9), encompasses a phenotype comprising pulmonary hypoplasia/agenesis, diaphragmatic eventration/hernia, anophthalmia/microphthalmia, and cardiac defects (PDAC). It is a rare autosomal recessive condition with an unfavorable prognosis caused by mutations in the STRA6 (Signaling Receptor and Transporter of Retinol) gene. We report a female neonate with bilateral anophthalmia, right lung hypoplasia, hypoplastic branch pulmonary arteries, and malrotation of right kidney secondary to Syndromic Microphthalmia-9. We also add hitherto undescribed phenotypic features of persistent left superior vena cava draining into a dilated coronary sinus, a partial anomalous pulmonary venous connection of the left pulmonary veins into the persistent left superior vena cava and uterus didelphys. Next-generation whole genome sequencing identified two novel pathogenic mutations in the STRA6, which were inherited from the carrier father (c.1301-6T>A) and the carrier mother (c. 347del), respectively. Although a genotype-phenotype correlation is not well established, the described mutations may be associated with severe congenital cardiac defects. This case highlights the association of ocular abnormalities with a myriad of congenital malformations and the utility of rapid whole-genome sequencing in aiding the diagnosis and prognostic management.</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Almasarweh, Saleem</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Acosta, Stephanie</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Jayakar, Parul</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Janvier, Michelin</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Wong, Terence C.</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Salyakina, Daria</subfield><subfield code="4">oth</subfield></datafield><datafield tag="700" ind1="1" ind2=" "><subfield code="a">Sasaki, Jun</subfield><subfield code="4">oth</subfield></datafield><datafield tag="773" ind1="0" ind2="8"><subfield code="i">Enthalten in</subfield><subfield code="n">Elsevier Science</subfield><subfield code="a">Sun, Li-Zhi ELSEVIER</subfield><subfield code="t">Synthesis and characterization of novel barium iron phosphates: Insight into new structure types tailored by hydrogen atoms</subfield><subfield code="d">2014transfer abstract</subfield><subfield code="g">Amsterdam [u.a.]</subfield><subfield code="w">(DE-627)ELV023068957</subfield></datafield><datafield tag="773" ind1="1" ind2="8"><subfield code="g">volume:64</subfield><subfield code="g">year:2022</subfield><subfield code="g">pages:0</subfield></datafield><datafield tag="856" ind1="4" ind2="0"><subfield code="u">https://doi.org/10.1016/j.ppedcard.2021.101443</subfield><subfield code="3">Volltext</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_USEFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ELV</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">SYSFLAG_U</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_70</subfield></datafield><datafield tag="912" ind1=" " ind2=" "><subfield code="a">GBV_ILN_72</subfield></datafield><datafield tag="936" ind1="b" ind2="k"><subfield code="a">52.56</subfield><subfield code="j">Regenerative Energieformen</subfield><subfield code="j">alternative Energieformen</subfield><subfield code="q">VZ</subfield></datafield><datafield tag="951" ind1=" " ind2=" "><subfield code="a">AR</subfield></datafield><datafield tag="952" ind1=" " ind2=" "><subfield code="d">64</subfield><subfield code="j">2022</subfield><subfield code="h">0</subfield></datafield></record></collection>
|
| score |
7.399728 |