Article
The molecular genetics of albinism and piebaldism.
Archives of dermatology - 1 Mar 1994
Tomita Y
Abstract excerpt
BACKGROUND: Oculocutaneous albinism (OCA) is an autosomal-recessive genetic disorder defined by hypomelanosis in the eyes, hair, and skin. Piebaldism is an autosomal-dominant congenital leukoderma associated with a white forelock. The molecular pathogeneses of these congenital pigmentary disorders have been clarified in recent years and are briefly reviewed here. OBSERVATIONS: The pathologic gene mutations...
Topics
- Albinism
- Alleles
- Animals
- Genetic Linkage
- Humans
- Infant
- Melanocytes
- Mice
- Mice, Inbred Strains
- Monophenol Monooxygenase
- Mutation
- Piebaldism
- Temperature