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Article

A novel SLC12A3 gene homozygous mutation of Gitelman syndrome in an Asian pedigree and literature review.

Journal of endocrinological investigation - 1 Mar 2016

Lü Q, Zhang Y, Song C, An Z, Wei S, Huang J, Huang L, Tang L, Tong N

Abstract excerpt

OBJECTIVES: Gitelman syndrome (GS) is an autosomal recessive disease characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and hypocalciuria which is caused by mutations in the SLC12A3 gene. In this study, we reported a case of GS pedigree and reviewed pertinent literature so as to explore the relationship between clinical characteristics and genotype meanwhile provide...

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Identifiers

PMID: 26260218
DOI: 10.1007/s40618-015-0371-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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