Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature

Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presenta...
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Autor*in:	Hui Zhu [verfasserIn] Zhi-hui Zhao [verfasserIn] Shu-yao Zhu [verfasserIn] Fu Xiong [verfasserIn] Li-hong He [verfasserIn] Yong Zhang [verfasserIn] Jin Wang [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Renal–hepatic–pancreatic dysplasia NPHP3 Ciliopathy

Übergeordnetes Werk:	In: BMC Pediatrics - BMC, 2003, 22(2022), 1, Seite 10
Übergeordnetes Werk:	volume:22 ; year:2022 ; number:1 ; pages:10

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc

DOI / URN:	10.1186/s12887-022-03659-7

Katalog-ID:	DOAJ086882236

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520			\|a Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants.
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allfields	10.1186/s12887-022-03659-7 doi (DE-627)DOAJ086882236 (DE-599)DOAJ77c0704db6684af3b8e17dda6e39f462 DE-627 ger DE-627 rakwb eng RJ1-570 Hui Zhu verfasserin aut Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants. Renal–hepatic–pancreatic dysplasia NPHP3 Ciliopathy Pediatrics Zhi-hui Zhao verfasserin aut Shu-yao Zhu verfasserin aut Fu Xiong verfasserin aut Li-hong He verfasserin aut Yong Zhang verfasserin aut Jin Wang verfasserin aut In BMC Pediatrics BMC, 2003 22(2022), 1, Seite 10 (DE-627)326643621 (DE-600)2041342-7 14712431 nnns volume:22 year:2022 number:1 pages:10 https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/article/77c0704db6684af3b8e17dda6e39f462 kostenfrei https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/toc/1471-2431 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 10
spelling	10.1186/s12887-022-03659-7 doi (DE-627)DOAJ086882236 (DE-599)DOAJ77c0704db6684af3b8e17dda6e39f462 DE-627 ger DE-627 rakwb eng RJ1-570 Hui Zhu verfasserin aut Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants. Renal–hepatic–pancreatic dysplasia NPHP3 Ciliopathy Pediatrics Zhi-hui Zhao verfasserin aut Shu-yao Zhu verfasserin aut Fu Xiong verfasserin aut Li-hong He verfasserin aut Yong Zhang verfasserin aut Jin Wang verfasserin aut In BMC Pediatrics BMC, 2003 22(2022), 1, Seite 10 (DE-627)326643621 (DE-600)2041342-7 14712431 nnns volume:22 year:2022 number:1 pages:10 https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/article/77c0704db6684af3b8e17dda6e39f462 kostenfrei https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/toc/1471-2431 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 10
allfields_unstemmed	10.1186/s12887-022-03659-7 doi (DE-627)DOAJ086882236 (DE-599)DOAJ77c0704db6684af3b8e17dda6e39f462 DE-627 ger DE-627 rakwb eng RJ1-570 Hui Zhu verfasserin aut Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants. Renal–hepatic–pancreatic dysplasia NPHP3 Ciliopathy Pediatrics Zhi-hui Zhao verfasserin aut Shu-yao Zhu verfasserin aut Fu Xiong verfasserin aut Li-hong He verfasserin aut Yong Zhang verfasserin aut Jin Wang verfasserin aut In BMC Pediatrics BMC, 2003 22(2022), 1, Seite 10 (DE-627)326643621 (DE-600)2041342-7 14712431 nnns volume:22 year:2022 number:1 pages:10 https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/article/77c0704db6684af3b8e17dda6e39f462 kostenfrei https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/toc/1471-2431 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 10
allfieldsGer	10.1186/s12887-022-03659-7 doi (DE-627)DOAJ086882236 (DE-599)DOAJ77c0704db6684af3b8e17dda6e39f462 DE-627 ger DE-627 rakwb eng RJ1-570 Hui Zhu verfasserin aut Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants. Renal–hepatic–pancreatic dysplasia NPHP3 Ciliopathy Pediatrics Zhi-hui Zhao verfasserin aut Shu-yao Zhu verfasserin aut Fu Xiong verfasserin aut Li-hong He verfasserin aut Yong Zhang verfasserin aut Jin Wang verfasserin aut In BMC Pediatrics BMC, 2003 22(2022), 1, Seite 10 (DE-627)326643621 (DE-600)2041342-7 14712431 nnns volume:22 year:2022 number:1 pages:10 https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/article/77c0704db6684af3b8e17dda6e39f462 kostenfrei https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/toc/1471-2431 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 10
allfieldsSound	10.1186/s12887-022-03659-7 doi (DE-627)DOAJ086882236 (DE-599)DOAJ77c0704db6684af3b8e17dda6e39f462 DE-627 ger DE-627 rakwb eng RJ1-570 Hui Zhu verfasserin aut Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants. Renal–hepatic–pancreatic dysplasia NPHP3 Ciliopathy Pediatrics Zhi-hui Zhao verfasserin aut Shu-yao Zhu verfasserin aut Fu Xiong verfasserin aut Li-hong He verfasserin aut Yong Zhang verfasserin aut Jin Wang verfasserin aut In BMC Pediatrics BMC, 2003 22(2022), 1, Seite 10 (DE-627)326643621 (DE-600)2041342-7 14712431 nnns volume:22 year:2022 number:1 pages:10 https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/article/77c0704db6684af3b8e17dda6e39f462 kostenfrei https://doi.org/10.1186/s12887-022-03659-7 kostenfrei https://doaj.org/toc/1471-2431 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 22 2022 1 10
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authorswithroles_txt_mv	Hui Zhu @@aut@@ Zhi-hui Zhao @@aut@@ Shu-yao Zhu @@aut@@ Fu Xiong @@aut@@ Li-hong He @@aut@@ Yong Zhang @@aut@@ Jin Wang @@aut@@
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RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. 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callnumber-first	R - Medicine
author	Hui Zhu
spellingShingle	Hui Zhu misc RJ1-570 misc Renal–hepatic–pancreatic dysplasia misc NPHP3 misc Ciliopathy misc Pediatrics Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature
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topic_title	RJ1-570 Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature Renal–hepatic–pancreatic dysplasia NPHP3 Ciliopathy
topic	misc RJ1-570 misc Renal–hepatic–pancreatic dysplasia misc NPHP3 misc Ciliopathy misc Pediatrics
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title	Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature
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title_full	Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature
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title_sort	renal–hepatic–pancreatic dysplasia-1 with a novel nphp3 genotype: a case report and review of the literature
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title_auth	Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature
abstract	Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants.
abstractGer	Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants.
abstract_unstemmed	Abstract Background Renal–hepatic–pancreatic dysplasia type 1 (RHPD1) is a rare sporadic and autosomal recessive disorder with unknown incidence. RHPD1 is caused by biallelic pathogenic variants in NPHP3, which encode nephrocystin, an important component of the ciliary protein complex. Case presentation In this case report, we describe a male newborn who was confirmed by ultrasound to have renal enlargement with multiple cysts, pancreatic enlargement with cysts, and increased liver echogenicity, leading to the clinical diagnosis of RHPD. In addition, a compound heterozygous pathogenic variant, namely, NPHP3 c.1761G < A (p. W587) and the c.69delC (p. Gly24Ala2411) variant, was detected by WES. The patient was clinically and genetically diagnosed with RHPD1. At 34 h of life, the infant died of respiratory insufficiency. Conclusion This is the first published case of RHPD1 in China. This study broadens the known range of RHPD1 due to NPHP3 pathogenic variants.
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title_short	Renal–hepatic–pancreatic dysplasia-1 with a novel NPHP3 genotype: a case report and review of the literature
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