Article
Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family.
Journal of dermatological science - 1 May 2009
Ouragini Houyem, Cherif Faïka, Kassar Selma, Floriddia Giovanna, Pascucci Monica, Daoud Wafa, Osman-Dhahri Amel Ben, Boubaker Samir, Castiglia Daniele, Abdelhak Sonia
Abstract excerpt
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous blistering disorder of the skin and mucous membranes. DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. On the basis of the mode of inheritance and the clinical manifestations, DEB is classified into two major subtypes: one dominant (DDEB) and one recessive (RDEB)....
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