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Patients with Recessive Dystrophic Epidermolysis Bullosa Develop Squamous-Cell Carcinoma Regardless of Type VII Collagen Expression

โœ Scribed by Pourreyron, Celine; Cox, Georgie; Mao, Xin; Volz, Andreas; Baksh, Nuzhat; Wong, Tracy; Fassihi, Hiva; Arita, Ken; O'Toole, Edel A; Ocampo-Candiani, Jorge

Book ID
110049950
Publisher
Nature Publishing Group
Year
2007
Tongue
English
Weight
221 KB
Volume
127
Category
Article
ISSN
0022-202X

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## Background: Dystrophic epidermolysis bullosa (deb) is a bullous skin disease caused by mutations in the type vii collagen gene (col7a1). ## Objective: To elucidate the mutations shown by two patients with deb and understand the clinical phenotypes that they displayed. ## Methods: We have cha

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## Communicated by Michel Goossens The Hallopeau-Siemens variant of recessive dystrophic epidermolysis bullosa (HS-RDEB) is a severe inherited skin disease characterized by the absence of collagen type VII (COLVII) and anchoring fibrils (AF), caused by mutations in collagen type VII gene (COL7A1).