Article
Identification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Investigative ophthalmology & visual science - 1 Apr 2024
Dai Erkuan, Liu Min, Li Shujin, Zhang Xiang, Wang Shiyuan, Zhao Rulian, He Yunqi, Peng Li, Lv Liting, Xiao Haodong, Yang Mu, Yang Zhenglin, Zhao Peiquan
Abstract excerpt
Purpose: The purpose of this study is to report five novel FZD4 mutations identified in familial exudative vitreoretinopathy (FEVR) and to analyze and summarize the pathogenic mechanisms of 34 of 96 reported missense mutations in FZD4. Methods: Five probands diagnosed with FEVR and their family members were enrolled in the study. Ocular examinations and targeted gene panel sequencing were conducted on all...
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