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.
Original language | English (US) |
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Pages (from-to) | 118-120 |
Number of pages | 3 |
Journal | Birth defects original article series |
Volume | 7 |
Issue number | 8 |
State | Published - Jun 1 1971 |