A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy

A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathy

Abstract Background Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous retinal disorder characterized with failure of vascular development of the peripheral retina. The symptoms of FEVR vary widely among patients in the same family, and even between the...

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Bibliographic Details
Main Authors: Wei Li, Ziwei Wang, Yan Sun, Zhuoshi Wang, Jinyue Bai, Bo Xing, Xiao Sun, Lusheng Wang, Jiankang Li, Wei He
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
clinical heterogeneous manifestations
Familial exudative vitreoretinopathy
fundus fluorescein angiography
start codon mutation
Online Access:https://doi.org/10.1002/mgg3.948

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