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Article

Clinical Auditory Phenotypes Associated with GATA3 Gene Mutations in Familial Hypoparathyroidism-deafness-renal Dysplasia Syndrome.

Chinese medical journal - 20 Mar 2017

Wang Li, Lin Qiong-Fen, Wang Hong-Yang, Guan Jing, Lan Lan, Xie Lin-Yi, Yu Lan, Yang Ju, Zhao Cui, Liang Jin-Long, Zhou Han-Lin, Yang Huan-Ming, Xiong Wen-Ping, Zhang Qiu-Jing, Wang Da-Yong, Wang Qiu-Ju

Abstract excerpt

BACKGROUND: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all...

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Identifiers

PMID: 28303854
DOI: 10.4103/0366-6999.201600
PMCID: PMC5358421

Genes

GATA3

Variants

Provenance

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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