Journal of dermatological science
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Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism. ⋯ These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.