Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study

Abstract Introduction Dent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the rarity of Dent disease type I and the diversity of its phenotypes, its clinical diagnosis is complex and poses a challenge to clinicians. Meth...

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Hlavní autoři:	Ruijue Zhu, Mingming Zhu, Boye Wang, Enen Chen, Danlei Cai, Yinghong Yang, Yi Liang, Chuqi Su, Ding Wang, Xiaofang Sun, Linhuan Huang, Yingjun Xie
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2024-01-01
Edice:	BMC Medical Genomics
Témata:	Dent disease CLCN5 gene pathogenic variant Foetus Prenatal diagnosis
On-line přístup:	https://doi.org/10.1186/s12920-024-01809-7
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