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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Hlavní autoři: Youjia Zhang, Lili Feng, Xiangmei Kong, Jihong Wu, Yuhong Chen, Guohong Tian
Médium: Artigo
Jazyk:Inglês
Vydáno: BMC 2019-08-01
Edice:Orphanet Journal of Rare Diseases
Témata:
Wolfram syndrome
DIDMOAD
Optic atrophy
Next generation sequence
WFS1
CISD2
On-line přístup:http://link.springer.com/article/10.1186/s13023-019-1161-y
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