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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Format: | Book |
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BMC,
2018-03-01T00:00:00Z.
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A1234.567 |
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