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. The parents show no clinical signs of epidermolytic hyperkeratosis but were concerned about the possibility of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.