Bart B J
Birth Defects Orig Artic Ser. 1971 Jun;7(8):118-20.
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.
一个家族中描述了一种综合征，其特征为先天性下肢皮肤缺失、皮肤和黏膜水疱形成以及指甲先天性缺失和畸形。该综合征的遗传方式为完全外显的常染色体显性基因遗传。该综合征的表现度可变。
