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Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy

Objective To explore the clinical manifestations and search for the variants of six related genes (LRP5, FZD4, TSPAN12, NDP, KIF11 and ZNF408) in Chinese patients with familial exudative vitreoretinopathy (FEVR), and investigate the correlation between the genetic variants and the clinical character...

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Principais autores: Jianbo Mao, Yijing Chen, Yuyan Fang, Yirun Shao, Ziyi Xiang, Hanxiao Li, Shixin Zhao, Yiqi Chen, Lijun Shen
Format: Artigo
Sprog:Inglês
Udgivet: Taylor & Francis Group 2022-12-01
Serier:Annals of Medicine
Fag:
LRP5
FZD4
TSPAN12
NDP
KIF11
foveal hypoplasia
Online adgang:https://www.tandfonline.com/doi/10.1080/07853890.2022.2146744
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