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Article

Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.

Audiology & neuro-otology - 1 Jan 2006

van Looij Marjolein A J, Meijers-Heijboer Hanne, Beetz Rolf, Thakker Rajesh V, Christie Paul T, Feenstra Lou W, van Zanten Bert G A

Abstract excerpt

Haploinsufficiency of the zinc finger transcription factor GATA3 causes the triad of hypoparathyroidism, deafness and renal dysplasia, known by its acronym HDR syndrome. The purpose of the current study was to describe in detail the auditory phenotype in human HDR patients and compare these to audiometrical and histological data previously described in a mouse model of this disease. Pure tone audiometry, speech...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evoked Potentials, Auditory, Brain Stem

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Source

Identifiers

PMID: 16988501
DOI: 10.1159/000095899

Genes

GATA3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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