Article
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.
The Journal of investigative dermatology - 1 Jan 1994
Rothnagel J A, Longley M A, Holder R A, Küster W, Roop D R
Abstract excerpt
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disorder caused by defects in the suprabasal keratins. Recently, mutations in the keratins 1 and 10 have been identified in patients with this disease. In this study, direct gene sequencing was used to establish the prenatal diagnosis in 15-week gestation twins at risk for epidermolytic hyperkeratosis....
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