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Article

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.

European journal of human genetics : EJHG - 1 Dec 2005

Hansen Lars, Eiberg Hans, Barrett Timothy, Bek Toke, Kjaersgaard Per, Tranebjaerg Lisbeth, Rosenberg Thomas

Abstract excerpt

Wolfram syndrome (WS) is a neuro-degenerative autosomal recessive (AR) disorder (OMIM #222300) caused by mutations in the WFS1 gene on 4p16.1. More than 120 mutations have been identified in WFS1 associated with AR WS, as well as autosomal dominant nonsyndromic low-frequency sensorineural hearing loss (LFSNHL). WFS1 variants were identified in eight subjects from seven families with WS, leading to the...

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Identifiers

PMID: 16151413
DOI: 10.1038/sj.ejhg.5201491

Genes

WFS1

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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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Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.PMID 16151413Read ↗

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