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Article

Epidermolytic hyperkeratosis: applied molecular genetics.

The Journal of investigative dermatology - 1 Mar 1994

DiGiovanna J J, Bale S J

Abstract excerpt

Epidermolytic hyperkeratosis is an autosomal dominant ichthyosis characterized by blistering, especially at birth and during childhood, and hyperkeratosis. Epidermolytic hyperkeratosis presents striking clinical heterogeneity, particularly between families. Several avenues of research have implicated an abnormality of epidermal differentiation in the pathogenesis of this disease. In a three-generation family with...

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PMID: 7509838
DOI: 10.1111/1523-1747.ep12371801

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