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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Detalles Bibliográficos
Autores principales: Chen, Wenqing, Zhou, Qin, Chen, Hongjun, Li, Heng, Chen, Jianghua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291089/
https://www.ncbi.nlm.nih.gov/pubmed/37377595
http://dx.doi.org/10.3389/fgene.2023.1067242

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10291089/
https://www.ncbi.nlm.nih.gov/pubmed/37377595
http://dx.doi.org/10.3389/fgene.2023.1067242

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