Dominant dystrophic epidermolysis bullosa, albopapular type (disorder)

Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder that can be inherited autosomal dominantly (DDEB) or… (More)

Dominant-negative interference by glycine substitution mutations in the COL7A1 gene causes dominant dystrophic epidermolysis… (More)

BACKGROUND The presence in a family of a child or children with epidermolysis bullosa (EB) may have profound psychological… (More)

A standardized questionnaire was used to assess mobility, activity and pain in 140 randomly chosen children, who were… (More)

BACKGROUND Glycine substitution mutations in COL7A1 not only cause dominant dystrophic epidermolysis bullosa (DDEB), but can also… (More)

BACKGROUND Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type… (More)

Peter B Cserhalmi-Friedman, Maria C Garzon, Edwin Guzman, Amalia Martinez-Mir, Wendy K Chung, Kwame Anyane-Yeboa and Angela M… (More)

Mutations in the type VII collagen gene (COL7A1) have been shown to underlie dystrophic epidermolysis bullosa (DEB). The… (More)

Pretibial epidermolysis bullosa (PEB) is a rare variant of dominant dystrophic EB (DDEB) in which recurrent blistering with… (More)

Epidermolysis bullosa (EB) in a group of genodermatoses characterized by the fragility of skin. Previous studies on the… (More)