title: Human piebaldism: relationship between phenotype and site of kit gene mutation.
abstract: Human piebaldism is a rare autosomal 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.
authors.affiliation: Department of Dermatology, General Hospital, Birmingham, U.K.
authors.forename: K A
authors.initials: KA
authors.lastname: Ward
authors.forename: C
authors.initials: C
authors.lastname: Moss
authors.forename: D S
authors.initials: DS
authors.lastname: Sanders
mesh_terms: D000293:Adolescent; D000328:Adult; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008407:Mast Cells; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics* / Q000473:pathology; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D016184:Receptors, Colony-Stimulating Factor / Q000235:genetics*; D012867:Skin / Q000473:pathology
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D016184:Receptors, Colony-Stimulating Factor; D019009:Proto-Oncogene Proteins c-kit; D020794:Receptor Protein-Tyrosine Kinases