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Article

Epidermolysis bullosa simplex with muscular dystrophy.

Dermatologic clinics - 1 Apr 2010

Chiavérini C, Charlesworth A, Meneguzzi G, Lacour J P, Ortonne J P

Abstract excerpt

Epidermolysis bullosa simplex (EBS) is an inherited skin disorder characterized by separation of the epidermis from the underlying dermis, with the cleavage plane lying within the basal-cell layer of the epithelium. The major clinical subtypes of EBS have a dominant inheritance and have been associated with genetic defects in specific domains of keratins K5 and K14 that result in abnormal organization of the...

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Source

Identifiers

PMID: 20447487
DOI: 10.1016/j.det.2010.01.001

Genes

PLEC

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