Portal de Periódicos da CAPES

Human piebaldism: relationship between phenotype and site of kit gene mutation

2010; Oxford University Press; Volume: 132; Issue: 6 Linguagem: Inglês

10.1111/j.1365-2133.1995.tb16951.x

1365-2133

Ken Ward, Celia Moss, D. S. A. Sanders,

Cancer and Skin Lesions

Human piebaldism is a rare autosomaal dominant disorder characterized by congenital depigmented patches of skin and hair. Piebaldism results from mutations of the kit proto‐oncogene, which encodes a cell‐surface receptor, tyrosine kinase, whose ligand is the stem/mast cell growth factor. We report four unrelated patients with piebaldism and consider the variations in phenotype in relation to the site of the kit gene mutation.