A novel MITF splice site mutation in a family with Waardenburg syndrome

J Dermatol Sci. 2008 Oct;52(1):64-6. doi: 10.1016/j.jdermsci.2008.05.003. Epub 2008 Jul 1.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Exons / genetics
  • Family
  • Humans
  • Male
  • Microphthalmia-Associated Transcription Factor / genetics*
  • Mutation*
  • Waardenburg Syndrome / genetics*

Substances

  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor