The molecular genetics of albinism and piebaldism.

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

Share this publication in a Topic to start or enrich a Post.

• Share to Alleles
• Share to Genetic Linkage
• Share to Infant