Novel mutations and the ophthalmologic characters in Chinese patients with Wolfram Syndrome

Abstract Background Wolfram Syndrome (WFS) is a rare autosomal recessive neurodegenerative disease which has a wide spectrum of manifestations including diabetes insipidus, diabetes mellitus, optic atrophy and deafness. WFS1 and CISD2 are two main causing genes of WFS. The aim of this study was to i...

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Главные авторы: Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen, Guohong Tian
Формат: Artigo
Язык:Inglês
Опубликовано: BMC 2019-08-01
Серии:Orphanet Journal of Rare Diseases
Предметы:
Wolfram syndrome
DIDMOAD
Optic atrophy
Next generation sequence
WFS1
CISD2
Online-ссылка:http://link.springer.com/article/10.1186/s13023-019-1161-y
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