Abstract:Recessive Dystrophic Epidermolysis Bullosa (RDEB) is a debilitating genodermatosis caused by pathogenic mutations in COL7A1 gene, which induce absence or reduction in the number of anchoring fibrils. The severity of RDEB manifestation depends on the mutation type and localization, but many aspects of this dependence remain to be elucidated. Here, we report a novel variant of intermediate RDEB for two unrelated patients, whose disease manifestation includes early skin and oral mucosa blistering and is associat… Show more
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