Abstract:Purpose
To report the novel causative variants in five Chinese families with familial exudative vitreoretinopathy (FEVR).
Methods
Five unrelated Chinese families diagnosed with FEVR were enrolled in this study. Ocular examinations and genetic analysis were performed on the probands and family members. Luciferase assay was performed to evaluate the variants’ impacts on Norrin/β-catenin signaling activity.
Results
Five novel variants, including… Show more
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