Bouwes Bavinck J N, van Haeringen A, Ruiter D, van der Schroeff J G
Clin Genet. 1987 Jun;31(6):416-24. doi: 10.1111/j.1399-0004.1987.tb02836.x.
We report on a family with autosomal dominant dystrophic epidermolysis bullosa and congenital localized absence of skin, resembling the features of Bart's Syndrome. This type of epidermolysis bullosa and the Cockayne-Touraine and Pasini types may represent different expressions of the same gene defect.
我们报告了一个患有常染色体显性营养不良性大疱性表皮松解症和先天性局限性皮肤缺失的家族,其特征类似于巴特综合征。这种类型的大疱性表皮松解症与科凯恩 - 图赖讷型和帕西尼型可能代表同一基因缺陷的不同表现形式。