Five novel pathogenic FZD4 variants identified in familial exudative vitreoretinopathy

Purpose: Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal vascular disorder, with nearly half of the cases attributed to mutations in genes involved in the Norrin/β-catenin signaling pathway. This study aimed to identify and functionally characterize novel FZD4 vari...

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Bibliographic Details

Published in:	Advances in Ophthalmology Practice and Research
Main Authors:	You Wang, Qiong Wang, Limei Chen, Tao Cai, Xiaoyan Ding
Format:	Article
Language:	English
Published:	Elsevier 2025-11-01
Subjects:	Familial exudative vitreoretinopathy FZD4 Norrin/β-catenin Genotype Phenotype
Online Access:	http://www.sciencedirect.com/science/article/pii/S2667376225000344