Article
The clinical spectrum of dystrophic epidermolysis bullosa.
The British journal of dermatology - 1 Feb 2002
Horn H M, Tidman M J
Abstract excerpt
BACKGROUND: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis resulting from mutations in COL7A1, the gene encoding type VII collagen. The site and specific nature of the underlying mutation determine the clinical phenotype, which ranges widely from a severe mutilating condition to a relatively mild disorder. OBJECTIVES: To document the clinical spectrum of DEB within a defined complete population....
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