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....
Topics
- Adult
- Base Sequence
- Chorionic Villi
- DNA
- Diseases in Twins
- Female
- Fetal Diseases
- Genes, Dominant
- Humans
- Hyperkeratosis, Epidermolytic
- Keratins
- Laminin