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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

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