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Article

Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.

The Journal of clinical endocrinology and metabolism - 1 Apr 2005

Zahirieh Alireza, Nesbit M Andrew, Ali Asif, Wang Kairong, He Ning, Stangou Maria, Bamichas Gerasimos, Sombolos Kostas, Thakker Rajesh V, Pei York

Abstract excerpt

The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by mutations of a member of the GATA-binding family of transcription factors, GATA3. This dual zinc finger transcription factor binds DNA with its C-terminal zinc finger (ZnF2) and stabilizes this binding with its N-terminal zinc finger (ZnF1). ZnF1 also interacts with other zinc finger proteins, notably...

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Identifiers

PMID: 15705923
DOI: 10.1210/jc.2004-1969

Genes

GATA3

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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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Functional analysis of a novel GATA3 mutation in a family with the hypoparathyroidism, deafness, and renal dysplasia syndrome.PMID 15705923Read ↗

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A novel mutation in the GATA3 gene in a family with HDR syndrome (Hypoparathyroidism, sensorineural Deafness and Renal anomaly syndrome).Semantic proximity Read ↗

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