Two children with a mild or moderate piebaldism phenotype and a father without leukoderma in a family with the same recurrent missense mutation in the kinase domain of KIT

Eur J Dermatol. 2011 May-Jun;21(3):446-7. doi: 10.1684/ejd.2011.1350.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Child, Preschool
  • DNA / genetics*
  • Fathers*
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Phenotype
  • Phosphotransferases / genetics*
  • Piebaldism / enzymology
  • Piebaldism / genetics*
  • Proto-Oncogene Proteins c-kit / genetics*

Substances

  • DNA
  • Phosphotransferases
  • Proto-Oncogene Proteins c-kit