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

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...

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Detalles Bibliográficos
Autores principales: Li, Min, Liu, Jia, Yi, Huan, Xu, Li, Zhong, Xiufeng, Peng, Fuhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857142/
https://www.ncbi.nlm.nih.gov/pubmed/29549887
http://dx.doi.org/10.1186/s12887-018-1091-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857142/
https://www.ncbi.nlm.nih.gov/pubmed/29549887
http://dx.doi.org/10.1186/s12887-018-1091-1

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