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A NOVEL COMPOUND HETEROZYGOUS VARIANT OF SLC12A3 GENE IN A PEDIGREE WITH GITELMAN SYNDROME CO-EXISTENT WITH THYROID DYSFUNCTION.

Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists - 2 Oct 2018

Liu Simo, Ke Jing, Zhang Baoyu, Yu Caiguo, Feng Yingmei, Zhao Dong

Abstract excerpt

OBJECTIVE: Gitelman syndrome (GS) is an autosomal recessive disorder characterized by salt wasting and hypokalemia resulting from mutations in the SLC12A3 (solute carrier family 12 member 3) gene, which encodes the thiazide-sensitive sodium-chloride cotransporter. To date, more than 488 mutations of the SLC12A3 gene have been discovered in patients with GS. In this study, we reported a GS pedigree complicated by...

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PMID: 30084681
DOI: 10.4158/EP-2018-0218

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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