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

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

Abstract 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...

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Bibliographic Details
Main Authors: Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng
Format: Article
Language:English
Published: BMC 2018-03-01
Series:BMC Pediatrics
Subjects:
Wolfram syndrome
WFS1 gene
Mutation
Online Access:http://link.springer.com/article/10.1186/s12887-018-1091-1

Internet

http://link.springer.com/article/10.1186/s12887-018-1091-1

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