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Whole-Exome Sequencing Identified DLG1 as a Candidate Gene for Familial Exudative Vitreoretinopathy
Genetic Testing and Molecular Biomarkers  (IF1.795),  Pub Date : 2021-05-17, DOI: 10.1089/gtmb.2021.0013
Shanshan Zhang, Xiao Li, Wenjing Liu, Xiang Zhang, Lulin Huang, Shujin Li, Mu Yang, Peiquan Zhao, Jiyun Yang, Ping Fei, Xianjun Zhu, Zhenglin Yang

Purpose: Familial exudative vitreoretinopathy (FEVR) is a blinding retinal vascular disease. Clinically, FEVR is characterized by incomplete vascularization of the peripheral retina and pathological neovascularization. Only about 50% of FEVR cases can be explained by known FEVR disease gene variations. This study aimed to identify novel genes associated with the FEVR phenotype and explore their pathogenic mechanisms.