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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Podrobná bibliografie
Vydáno v:Case Rep Nephrol Dial
Hlavní autoři: Ishikawa, Moena, Tada, Yumi, Tanaka, Hiromu, Morii, Wataru, Inaba, Masako, Takada, Hidetoshi, Mori, Takayasu, Noguchi, Emiko
Médium: Artigo
Jazyk:Inglês
Vydáno: S. Karger AG 2020
Témata:
Case Report
On-line přístup: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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