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Article

Molecular characterization of WFS1 in patients with Wolfram syndrome.

The Journal of molecular diagnostics : JMD - 1 May 2003

van ven Ouweland Johannes M W, Cryns Kim, Pennings Ronald J E, Walraven Inge, Janssen George M C, Maassen J Antonie, Veldhuijzen Bernard F E, Arntzenius Alexander B, Lindhout Dick, Cremers Cor W R J, Van Camp Guy, Dikkeschei Lambert D

Abstract excerpt

Wolfram (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness) syndrome is a rare autosomal-recessive neurodegenerative disorder that is characterized by juvenile-onset diabetes mellitus, optic atrophy, diabetes insipidus, and sensorineural hearing impairment. A gene responsible for Wolfram syndrome (WFS1) has been identified on the short arm of chromosome 4 and subsequently mutations in WFS1 have...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 12707373
DOI: 10.1016/s1525-1578(10)60457-6
PMCID: PMC1907324

Genes

WFS1

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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Molecular characterization of WFS1 in patients with Wolfram syndrome.PMID 12707373Read ↗

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Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.Semantic proximity Read ↗

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.Semantic proximity Read ↗

Genotype and Clinical Characteristics of Patients with Wolfram Syndrome and WFS1-related DisordersSemantic proximity Read ↗

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