Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

Novel compound heterozygous variants of SLC12A3 gene in a Chinese patient with Gitelman syndrome: a case report

Background: The Gitelman syndrome (GS) is an autosomal recessive disorder of renal tubular salt handling. Gitelman syndrome is characterized by hypokalemia, metabolic alkalosis, hypomagnesemia, hypocalciuria, and renin-angiotensin-aldosterone system (RAAS) activation, and is caused by variants in th...

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Bibliographic Details
Main Authors: Wenqing Chen, Qin Zhou, Hongjun Chen, Heng Li, Jianghua Chen
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Genetics
Subjects:
Gitelman syndrome
clinical characteristics
SLC12A3 gene
whole-exome sequencing
gene mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2023.1067242/full

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https://www.frontiersin.org/articles/10.3389/fgene.2023.1067242/full

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