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Article

The novel compound heterozygous mutations, V434del and W666X, in WFS1 gene causing the Wolfram syndrome in a Chinese family.

Endocrine - 1 Apr 2009

Hong Jie, Zhang Yu-Wen, Zhang Hui-Jie, Jia Hui-Ying, Zhang Yu, Ding Xiao-Yi, Zhou Dan-Yang, Chen Hui-Ping, Jiang Xiao-Hua, Cui Bin, Li Xiao-Ying, Ning Guang

Abstract excerpt

Wolfram syndrome (WFS), also known as DIDMOAD, is an infrequent cause of diabetes mellitus. WFS is an autosomal recessive neurodegenerative disease characterized by various clinical manifestations such as diabetes mellitus, optic atrophy, diabetes insipidus, deafness, neurological symptoms, renal tract abnormalities, psychiatric disorders, and gonadal disorders. The majority of patients with WFS carry the loss of...

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Source

Identifiers

PMID: 19160074
DOI: 10.1007/s12020-009-9145-7

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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