Clinical Characteristics of Wolfram Syndrome in Chinese Population and a Novel Frameshift Mutation in WFS1

OBJECTIVE: Wolfram syndrome (WS) is a rare, degenerative, and hereditary disorder characterized by ear diabetes mellitus (DM) and optic atrophy (OA). We aim to characterize clinical features in Chinese patients who had been poorly studied until now. METHODS: We performed a retrospective review of pa...

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Detalles Bibliográficos
Autores principales: Duan, Lian, Li, Qian, Tong, An-Li, Mao, Jiang-Feng, Yu, Miao, Yuan, Tao, Chai, Xiao-Feng, Gu, Feng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816339/
https://www.ncbi.nlm.nih.gov/pubmed/29483894
http://dx.doi.org/10.3389/fendo.2018.00018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816339/
https://www.ncbi.nlm.nih.gov/pubmed/29483894
http://dx.doi.org/10.3389/fendo.2018.00018

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