Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

Unique three-site compound heterozygous mutation in the WFS1 gene in Wolfram syndrome

Abstract Background Wolfram syndrome (WFS) is a rare autosomal recessive genetic disease whose main cause is mutations in the WFS1 and CISD2 genes. Its characteristic clinical manifestations are diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Methods In this study, two patients fr...

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Bibliographic Details
Main Authors: Ziyu Ren, Jixiu Yi, Min Zhong, Yunting Wang, Qicong Liu, Xuan Wang, Dongfang Liu, Wei Ren
Format: Article
Language:English
Published: BMC 2021-08-01
Series:BMC Endocrine Disorders
Subjects:
Wolfram syndrome
Diabetes mellitus
WFS1
Compound heterozygous mutation
Online Access:https://doi.org/10.1186/s12902-021-00823-5

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