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Article

Sex-related hearing impairment in Wolfram syndrome patients identified by inactivating WFS1 mutations.

Audiology & neuro-otology - 1 Jan 2000

Pennings Ronald J E, Huygen Patrick L M, van den Ouweland Jody M W, Cryns Kim, Dikkeschei Lambert D, Van Camp Guy, Cremers Cor W R J

Abstract excerpt

This study examined the audiovestibular profile of 11 Wolfram syndrome patients (4 males, 7 females) from 7 families, with identified WFS1 mutations, and the audiometric profile of 17 related heterozygous carriers of WFS1 mutations. Patients with Wolfram syndrome showed a downsloping audiogram and progressive hearing impairment. None of the carriers had sensorineural hearing loss. Two patients with missense...

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Source

Identifiers

PMID: 14676474
DOI: 10.1159/000074187

Genes

WFS1

Provenance

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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