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Article

Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

European journal of medical genetics - 1 Jan 2012

Yuca Sevil Ari, Rendtorff Nanna Dahl, Boulahbel Houda, Lodahl Marianne, Tranebjærg Lisbeth, Cesur Yasar, Dogan Murat, Yilmaz Cahide, Akgun Cihangir, Acikgoz Mehmet

Abstract excerpt

Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many...

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PMID: 21968327
DOI: 10.1016/j.ejmg.2011.08.005

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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