Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

Three uncommon mutations of the SLC12A3 gene in gitelman syndrome: case reports and review of the literature

Abstract Background Gitelman syndrome is a rare autosomal recessive salt-wasting tubulopathy characterized by low potassium and magnesium levels in the blood, decreased excretion of calcium in the urine, and metabolic alkalosis. It is commonly caused by an inactivating mutation in the SLC12A3 gene (...

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Bibliographic Details
Main Authors: Melis Akpinar Gozetici, Fadime Ersoy Dursun, Hasan Dursun
Format: Article
Language:English
Published: SpringerOpen 2022-04-01
Series:Egyptian Journal of Medical Human Genetics
Subjects:
Gitelman syndrome
Hypokalemia
Hypomagnesemia
SLC12A3 gene mutations
Online Access:https://doi.org/10.1186/s43042-022-00288-8

Internet

https://doi.org/10.1186/s43042-022-00288-8

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