A Family with Gitelman Syndrome with Asymptomatic Phenotypes while Carrying Reported SLC12A3 Mutations

Gitelman syndrome (GS) is an autosomal recessive disorder characterized by alkalosis, hypokalemia, and hypomagnesemia. Although hundreds of genetic variants associated with GS have been reported, many of them are categorized as of uncertain significance in ClinVar. Here, we describe a pediatric GS p...

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Bibliografiske detaljer
Udgivet i:Case Rep Nephrol Dial
Main Authors: Ishikawa, Moena, Tada, Yumi, Tanaka, Hiromu, Morii, Wataru, Inaba, Masako, Takada, Hidetoshi, Mori, Takayasu, Noguchi, Emiko
Format: Artigo
Sprog:Inglês
Udgivet: S. Karger AG 2020
Fag:
Case Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7443650/
https://ncbi.nlm.nih.gov/pubmed/32884933
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000507845
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