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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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2018-03-01
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| coleção: | BMC Pediatrics |
| Assuntos: | |
| Acesso em linha: | http://link.springer.com/article/10.1186/s12887-018-1091-1 |
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