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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Principais autores:	Wenqing Chen, Qin Zhou, Hongjun Chen, Heng Li, Jianghua Chen
Formato:	Artigo
Idioma:	Inglês
Publicado em:	Frontiers Media S.A. 2023-06-01
Colecção:	Frontiers in Genetics
Assuntos:	Gitelman syndrome clinical characteristics SLC12A3 gene whole-exome sequencing gene mutation
Acesso em linha:	https://www.frontiersin.org/articles/10.3389/fgene.2023.1067242/full
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