Article
Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.
Prenatal diagnosis - 1 Aug 1998
Rothnagel J A, Lin M T, Longley M A, Holder R A, Hazen P G, Levy M L, Roop D R
Abstract excerpt
Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma) is an autosomal dominant skin disorder caused by mutations in keratins 1 and 10. We have used direct gene sequencing to ascertain the status of a 15 week fetus of parents whose first child was affected with this disorder...
Topics
- Amniotic Fluid
- DNA Mutational Analysis
- DNA Restriction Enzymes
- Female
- Humans
- Hyperkeratosis, Epidermolytic
- Keratins
- Mosaicism
- Mutation
- Point Mutation
- Polymerase Chain Reaction
- Pregnancy