Article
Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.
Human molecular genetics - 1 Aug 2014
Odorisio Teresa, Di Salvio Michela, Orecchia Angela, Di Zenzo Giovanni, Piccinni Eugenia, Cianfarani Francesca, Travaglione Antonella, Uva Paolo, Bellei Barbara, Conti Andrea, Zambruno Giovanna, Castiglia Daniele
Abstract excerpt
Recessive dystrophic epidermolysis bullosa (RDEB) is a genodermatosis characterized by fragile skin forming blisters that heal invariably with scars. It is due to mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils connecting the cutaneous basement membrane to the dermis. Identical COL7A1 mutations often result in inter- and intra-familial disease variability,...
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