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Identification of novel variants in the FZD4 gene associated with familial exudative vitreoretinopathy in Chinese families.

Clinical & experimental ophthalmology - 1 Apr 2020

Xu Huijuan, Zhang Shanshan, Huang Lulin, Zhao Peiquan, Zhang Xiang, Yang Zhenglin, Zhang Lin

Abstract excerpt

BACKGROUND: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe hereditary retinal disease characterized by incomplete retinal vascular development and pathological neovascularization. It has been reported that variants in nine genes are associated with FEVR, but they can only explain approximately 50% of FEVR patients, suggesting that other FEVR-associated variants or genes remain to be...

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PMID: 31765079
DOI: 10.1111/ceo.13690

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