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Whole-Exome Sequencing Reveals Novel TSPAN12 Variants in Autosomal Dominant Familial Exudative Vitreoretinopathy
Genetic Testing and Molecular Biomarkers  (IF1.795),  Pub Date : 2021-06-16, DOI: 10.1089/gtmb.2021.0019
Chen Chen, Mu Yang, Lulin Huang, Rulian Zhao, Periasamy Sundaresan, Xianjun Zhu, Shujin Li, Zhenglin Yang

Background: Familial exudative vitreoretinopathy (FEVR), a group of rare inherited retinal vascular disorders, is the major cause of vision loss in juveniles. At present, the diagnosis of FEVR remains difficult due to its clinical and genetic heterogeneities.