A de novo SOX10 mutation in a patient with Waardenburg syndrome type IV

J Am Acad Dermatol. 2013 Jun;68(6):e177-8. doi: 10.1016/j.jaad.2012.10.021.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Humans
  • Male
  • Mutation, Missense*
  • SOXE Transcription Factors / genetics*
  • Sequence Analysis, DNA
  • Waardenburg Syndrome / genetics*

Substances

  • SOX10 protein, human
  • SOXE Transcription Factors