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Article

Molecular analysis of the GATA3 gene in five Japanese patients with HDR syndrome.

Endocrine journal - 1 Jan 2011

Nakamura Akie, Fujiwara Fumie, Hasegawa Yukihiro, Ishizu Katsura, Mabe Akiyo, Nakagawa Hiroyasu, Nagasaki Keisuke, Jo Wakako, Tajima Toshihiro

Abstract excerpt

GATA3 is a member of the GATA family of transcription factors. Heterozygous GATA3 abnormalities are associated with hypoparathyroidism, sensorineural deafness, and renal abnormality (HDR syndrome). However, this triad of symptoms does not occur in all HDR patients and other clinical features may be present in some cases. We report the clinical phenotypes and the molecular analysis of GATA3 in five Japanese HDR...

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Source

Identifiers

PMID: 21157112
DOI: 10.1507/endocrj.k10e-246

Genes

GATA3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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