Article
Evidence against keratin gene mutations in a family with ichthyosis hystrix Curth-Macklin.
The Journal of investigative dermatology - 1 Dec 1993
Bonifas J M, Bare J W, Chen M A, Ranki A, Neimi K M, Epstein E H
Abstract excerpt
Ichthyosis hystrix Curth-Macklin is a rare autosomal dominant disease characterized clinically by hyperkeratosis and ultrastructurally by disruption of the keratin intermediate filament network of suprabasal keratinocytes. We have used linkage analysis to test whether a keratin gene mutation migh...
Topics
- Chromosomes, Human, Pair 12
- Family Health
- Female
- Humans
- Ichthyosis
- Keratins
- Male
- Mutation
- Pedigree