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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Main Authors: Min Li (Author), Jia Liu (Author), Huan Yi (Author), Li Xu (Author), Xiufeng Zhong (Author), Fuhua Peng (Author)
Format: Book
Published: BMC, 2018-03-01T00:00:00Z.
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