Article
Whole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Molecular vision - 1 Jan 2022
Trang Duong Thu, Phu Nguyen Minh, Hung Do Manh, Nhung Vu Phuong, Ha Nguyen Ngan, Thuong Ma Thi Huyen, Ngoc Tran Thi Bich, Hiep Nguyen Xuan, Ton Nguyen Dang, Hai Nong Van, Ha Nguyen Hai
Abstract excerpt
Background: Familial exudative vitreoretinopathy (FEVR) is a rare inherited disorder marked by incomplete retinal vascularization associated with exudation, neovascularization, and tractional retinal detachment. FEVR is genetically heterogeneous and is caused by variants in six genes: FZD4, LRP5, NDP, TSPAN12, ZNF408, and CTNNB1. In addition, the phenotypic overlap between FEVR and other disorders has been...
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