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  • Title: Congenital localized absence of skin, blistering and nail abnormalities, a new syndrome.
    Author: Bart BJ.
    Journal: Birth Defects Orig Artic Ser; 1971 Jun; 7(8):118-20. PubMed ID: 5173254.
    Abstract:
    A syndrome consisting of congenital absence of skin, affecting the lower limbs, blistering of skin and mucous membranes and congenital absence and deformity of nails is described in a kindred. The mode of inheritance is that of a fully penetrant, autosomal dominant gene. Expressivity of the syndrome is variable.
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