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Autosomal dominant epidermolysis bullosa dystrophics: are the Cockayne‐ Touraine, the Pasini and the Bart‐types different expressions of the same mutant gene?
Author(s) -
Bavinck J. N. Bouwes,
Haeringen A. Van,
Ruiter D.,
Schroeff J. G. van der
Publication year - 1987
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1987.tb02836.x
Subject(s) - epidermolysis bullosa , dermatology , medicine , genetics , biology
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 Cockyane‐Touraine and Pasini types may represent different expressions of the same gene defect.