A founder COL17A1splice site mutation leading to generalized atrophic benign epidermolysis bullosa in an extended inbred Palestinian family from Israel

Autor: Whittock, Neil Vincent, Sher, Carron, Gold, Isaac, Libman, Vitalia, Reish, Orit
Zdroj: Genetics in Medicine; November-December 2003, Vol. 5 Issue: 6 p435-439, 5p
Abstrakt: Purpose Generalized atrophic benign epidermolysis bullosa is a nonlethal form of junctional EB with an autosomal recessive inheritance. There is generalized cutaneous blister formation at sites of trauma, atrophic alopecia affecting scalp, eyelash and eyebrow, dystrophic nail changes, and tooth abnormalities. In this study, we have studied a five-generation Palestinian family affected with generalized atrophic benign epidermolysis bullosa.
Databáze: Supplemental Index