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Article

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.

Journal of human genetics - 1 Aug 2013

Kytövuori Laura, Seppänen Allan, Martikainen Mika H, Moilanen Jukka S, Kamppari Seija, Särkioja Terttu, Remes Anne M, Räsänen Pirkko, Rönnemaa Tapani, Majamaa Kari

Abstract excerpt

Mutations in the wolframin gene, WFS1, cause Wolfram syndrome, a rare recessive neurodegenerative disorder. The clinical features include early-onset bilateral optic atrophy (OA), diabetes mellitus (DM), diabetes insipidus, hearing impairment, urinary tract abnormalities and psychiatric illness, and, furthermore, WFS1 variants appear to be associated with non-syndromic DM and hearing impairment. Variation of WFS1...

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Identifiers

PMID: 23595122
DOI: 10.1038/jhg.2013.29

Genes

WFS1

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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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