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Article

Audiometric characteristics of a dutch family with a new mutation in GATA3 causing HDR syndrome.

Audiology & neuro-otology - 1 Jan 2014

van Beelen E, Leijendeckers J M, Admiraal R J C, Huygen P L M, Hoefsloot L H, Pennings R J E, Snik A F M, Kunst H P M

Abstract excerpt

We present the case of a Dutch family with a new mutation (c523_528dup) in GATA3 causing HDR syndrome. HDR syndrome is characterised by hypoparathyroidism, deafness and renal defects. In this study, we describe the audiometric characteristics of 5 patients from this family. Their hearing impairment was congenital, bilateral and symmetric. Audiograms showed mild-to-moderate hearing impairment with a flat audiogram...

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Source

Identifiers

PMID: 24434941
DOI: 10.1159/000356303

Genes

GATA3

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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