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Article

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report.

BMC pediatrics - 17 Mar 2018

Li Min, Liu Jia, Yi Huan, Xu Li, Zhong Xiufeng, Peng Fuhua

Abstract excerpt

BACKGROUND: Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract anomalies. CASE PRESENTATION: Here we report a 11-year-old Chinese boy who presented with visual loss, was suspected with optic neuritis (ON) or neuromyelitis...

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Source

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Identifiers

PMID: 29549887
DOI: 10.1186/s12887-018-1091-1
PMCID: PMC5857142

Genes

WFS1

Provenance

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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