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Article

GATA3 abnormalities and the phenotypic spectrum of HDR syndrome.

Journal of medical genetics - 1 Jun 2001

Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T

Abstract excerpt

We report on GATA3 analysis and the phenotypic spectrum in nine Japanese families with the HDR syndrome (hypoparathyroidism, sensorineural deafness, and renal dysplasia) (MIM 146255). Fluorescence in situ hybridisation and microsatellite analyses showed heterozygous gross deletions including GATA...

Topics

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Chromosome Deletion
Deafness
Family Health
GATA3 Transcription Factor
Hearing Loss, Sensorineural
Hypoparathyroidism

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

In Situ Hybridization, Fluorescence

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Open in PubMed Open full text

Identifiers

PMID: 11389161
DOI: 10.1136/jmg.38.6.374
PMCID: PMC1734904

Genes

GATA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026. Prepared record publication-11389161-2026-08-31.1. Manifest publication-graph-cohort-2026-08-31.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 31 Aug 2026.

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