Article
Small molecule drug development for rare genodermatoses - evaluation of the current status in epidermolysis bullosa.
Orphanet journal of rare diseases - 19 Oct 2020
Wally Verena, Reisenberger Manuela, Kitzmüller Sophie, Laimer Martin
Abstract excerpt
BACKGROUND: Hereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes involved in the maintenance of the structural and functional integrity of dermo-epidermal adhesion in various stratified epithelia. In severe variants, generalized skin disease, extracutaneous manifestations and multi-organ involvement cause considerable morbidity and...
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