Article
Human piebald trait resulting from a dominant negative mutant allele of the c-kit membrane receptor gene.
The Journal of clinical investigation - 1 Jun 1992
Fleischman R A
Abstract excerpt
Human piebald trait is an autosomal dominant defect in melanocyte development characterized by patches of hypopigmented skin and hair. Although the molecular basis of piebaldism has been unclear, a phenotypically similar "dominant spotting" of mice is caused by mutations in the murine c-kit protooncogene. In this regard, one piebald case with a point mutation and another with a deletion of c-kit have been...
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