A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis

A novel CLCNKB variant in a Chinese family with classic Bartter syndrome and prenatal genetic diagnosis

Abstract Background Type III Bartter syndrome (BS), often known as classic Bartter syndrome is caused by variants in CLCNKB gene, which encoding the basolateral chloride channel protein ClC‐Kb, and is characterized by renal salt wasting, hypokalemia, metabolic alkalosis, increased renin, and aldoste...

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Bibliographic Details
Main Authors: Qianying Zhao, Qinqin Xiang, Yu Tan, Xiao Xiao, Hanbing Xie, He Wang, Mei Yang, Shanling Liu
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
classic Bartter syndrome
CLCNKB
exome sequencing
prenatal genetic diagnosis
Online Access:https://doi.org/10.1002/mgg3.2027

Internet

https://doi.org/10.1002/mgg3.2027

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