Article
A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
The Journal of investigative dermatology - 1 Dec 1998
Suga Y, Duncan K O, Heald P W, Roop D R
Abstract excerpt
Annular epidermolytic ichthyosis is a distinct phenotypic variant of bullous congenital ichthyosiform erythroderma that has recently been described in two separate kindreds. Individuals with this variant present with bullous ichthyosis in early childhood and hyperkeratotic lichenified plaques in...
Topics
- Adult
- Base Sequence
- Child
- Female
- Genetic Variation
- Humans
- Hyperkeratosis, Epidermolytic
- Ichthyosis
- Keratin-10
- Keratins
- Male
- Middle Aged
- Mutation
- Pedigree
- Phenotype
- Polymorphism, Restriction Fragment Length
- Sequence Analysis