Article
A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
The Journal of investigative dermatology - 1 Mar 1997
Joh G Y, Traupe H, Metze D, Nashan D, Huber M, Hohl D, Longley M A, Rothnagel J A, Roop D R
Abstract excerpt
Annular epidermolytic ichthyosis has recently been delineated as a distinct clinical phenotype within the spectrum of epidermolytic keratinization disorders. The pattern of inheritance of the disorder is consistent with an autosomal dominant mode of transmission. Here we report a second incidence...
Topics
- Adult
- Alleles
- Biopsy
- Extremities
- Female
- Genetic Variation
- Humans
- Hyperkeratosis, Epidermolytic
- Keratins
- Male
- Pedigree
- Phenotype