Article
Linkage of the epidermolytic hyperkeratosis phenotype and the region of the type II keratin gene cluster on chromosome 12.
The Journal of investigative dermatology - 1 Nov 1992
Bonifas J M, Bare J W, Chen M A, Lee M K, Slater C A, Goldsmith L A, Epstein E H
Abstract excerpt
Bullous congenital ichthyosiform erythroderma (epidermolytic hyperkeratosis) is a severe, generalized, lifelong disease of the skin. As in epidermolysis bullosa simplex, intraepidermal blisters and clumping of keratin intermediate filaments are characteristic. We report here linkage of the inheri...
Topics
- Chromosome Mapping
- Chromosomes, Human, Pair 12
- Epidermolysis Bullosa Simplex
- Female
- Genetic Linkage
- Humans
- Hyperkeratosis, Epidermolytic
- Keratins
- Male
- Pedigree
- Phenotype