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)|
|Number of pages||3|
|Journal||Birth defects original article series|
|State||Published - Jun 1 1971|