ER stress in the pathogenesis of pretibial dystrophic epidermolysis bullosa

Abstract

Dystrophic epidermolysis bullosa (DEB) is a rare hereditary disease characterized by blistering and scarring of the skin ¹ and caused by mutations in the COL7A1 gene which codes type VII collagen (C7). Pretibial dominant dystrophic epidermolysis bullosa (DDEB-Pt) is a subtype of DDEB that predominantly affects the pretibial region.

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