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Article

Identification of three novel mutations in the GATA3 gene responsible for familial hypoparathyroidism and deafness in the Chinese population.

The Journal of clinical endocrinology and metabolism - 1 Nov 2006

Chiu Wei-Yih, Chen Huan-Wen, Chao Hwei-Wen, Yann Lee-Tzong, Tsai Keh-Sung

Abstract excerpt

BACKGROUND: Familial hypoparathyroidism may be caused by mutations of several genes. The CaSR and GATA3 genes are the two candidates most commonly responsible for this condition. OBJECTIVES: We collected five unrelated families with familial hypoparathyroidism and examined their CaSR and GATA3 genes. METHODS: Blood samples from these five families and 50 ethnically matched unrelated controls were acquired....

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Source

Identifiers

PMID: 16912130
DOI: 10.1210/jc.2006-0864

Genes

GATA3

Variants

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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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