Clinical and genetic analysis of a pedigree with Wolfram syndrome

Clinical and genetic analysis of a pedigree with Wolfram syndrome

AIM: To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.METHODS: A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination, gene analysis and bioinformatics.RESULT: It was found that the prob...

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Bibliographic Details
Main Authors: Zi-Jie Chen, Yu-Kai Mao, Ning Fan, Yan-Fen Hong, Xu-Yang Liu
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2023-11-01
Series:Guoji Yanke Zazhi
Subjects:
wolfram syndrome
wfs1 gene
genetic analysis
mutation
Online Access:http://ies.ijo.cn/cn_publish/2023/11/202311032.pdf

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