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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Detalles Bibliográficos
Autores principales: Ishikawa, Moena, Tada, Yumi, Tanaka, Hiromu, Morii, Wataru, Inaba, Masako, Takada, Hidetoshi, Mori, Takayasu, Noguchi, Emiko
Formato: Online Artículo Texto
Lenguaje:English
Publicado: S. Karger AG 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443650/
https://www.ncbi.nlm.nih.gov/pubmed/32884933
http://dx.doi.org/10.1159/000507845

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7443650/
https://www.ncbi.nlm.nih.gov/pubmed/32884933
http://dx.doi.org/10.1159/000507845

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