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Bart syndrome

Pronunciation: bart

Definition: a form of epidermolysis bullosa with blistering of the extremities and intertriginous areas, congenital localized absence of skin, erosions of the mouth, and dystrophic nails; there is often spontaneous improvement with no residual scarring; autosomal dominant inheritance, caused by mutation in the collagen type VII gene (COL7A1) on chromosome 3p.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.