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]

Almasarweh, Saleem

Acosta, Stephanie

Jayakar, Parul

Janvier, Michelin

Wong, Terence C.

Salyakina, Daria

Sasaki, Jun

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:

Volltext

DOI / URN:

10.1016/j.ppedcard.2021.101443

Katalog-ID:

ELV056982933

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