Identification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.
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DOI: 10.1089/gtmb.2021.0223
Abstract: Background: Familial exudative vitreoretinopathy (FEVR, OMIM 133780) is a severe inherited eye disease characterized by abnormal development of the retinal vasculature. Variants in the reported genes account for ∼50% of total FEVR cases. However, the… read more here.
Keywords: exudative vitreoretinopathy; novel variants; familial exudative; lrp5 gene ... See more keywords