Article
New KIT mutations in patients with piebaldism.
Journal of dermatological science - 1 Jun 2004
Murakami Tomoko, Fukai Kazuyoshi, Oiso Naoki, Hosomi Naoko, Kato Atsushi, Garganta Cheryl, Barnicoat Angela, Poppelaars Francis, Aquaron Robert, Paller Amy S, Ishii Masamitsu
Abstract excerpt
BACKGROUND: 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. OBJECTIVES: To identify KIT mutations of the family with piebaldism and examine genotype-phenotype correlations in this disorder....
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