Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
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DOI: 10.1136/jmedgenet-2021-108259
Abstract: Background Familial exudative vitreoretinopathy (FEVR) is an inheritable blinding disorder with clinical and genetic heterogeneity. Heterozygous variants in the CTNNB1 gene have been reported to cause FEVR. However, the pathogenic basis of CTNNB1-associated FEVR has… read more here.
Keywords: exudative vitreoretinopathy; variants ctnnb1; ctnnb1; familial exudative ... See more keywords