LAUSR

Novel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review

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2 Published in 2023 at "Genes"

DOI: 10.3390/genes14030587

Abstract: Familial exudative vitreoretinopathy (FEVR) is a severe clinically and genetically heterogeneous disease that is characterized by vascular disorder. FEVR exhibits strikingly variable clinical phenotypes, ranging from asymptomatic to total blindness. In this case, we present… read more here.

Keywords: novel exon; family; exon deletions; tspan12 three ... See more keywords