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Article

Genetic analysis of the Gitelman syndrome coexisting with Osteogenesis imperfecta.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2021

Park Se Jin, Kim Ju Young, Ahn Hye-Jeong, Baik Haing-Woon, Kang Ju Hyung

Abstract excerpt

Gitelman syndrome (GS) is an autosomal recessive disorder caused by loss-of-function mutations in SLC12A3, which encodes the Na-Cl cotransporter (NCC). Osteogenesis imperfecta (OI) is an autosomal dominant disorder caused by the inheritance of mutations mainly in the COL1A1 gene, resulting in bone fragility and deformity. In this study, we aimed to investigate the clinical and genetic manifestations in a...

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Identifiers

PMID: 33775700
DOI: 10.1016/j.cca.2021.03.018

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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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