Phenotypic Characteristics of a Patient Cohort With Recessive Dystrophic Epidermolysis Bullosa and the Pathogenic Variant c.7485+5G>A in Intron 98 of COL7A1.

Abstract excerpt

Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genetic disorder caused by biallelic pathogenic variants in COL7A1, the gene encoding the alpha-1 chain of type VII collagen (C7). While over 100 pathogenic variants in COL7A1 have been linked to RDEB, recurrent variants or hot spots are rare. A recurrent pathogenic variant, c.7485+5G>A (also known as IVS98+5G>A) in intron 98 of COL7A1, has been noted in...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Child, Preschool
• Share to Collagen Type VII