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- W3080596173 abstract "Abstract We describe a case of pretibial dystrophic epidermolysis bullosa in a 5‐year‐old girl, her mother, and maternal great aunt. All subjects had trauma‐induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement." @default.
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- W3080596173 date "2020-08-25" @default.
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- W3080596173 title "Dominant pretibial dystrophic epidermolysis bullosa in an Italian family" @default.
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- W3080596173 doi "https://doi.org/10.1111/pde.14331" @default.
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