Waardenburg syndrome type IIE in a Japanese patient caused by a novel missense mutation in the SOX10 gene

J Dermatol. 2015 Dec;42(12):1211-2. doi: 10.1111/1346-8138.13095. Epub 2015 Sep 14.
No abstract available

Publication types

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

MeSH terms

  • Asian People / genetics
  • Humans
  • Iris / pathology
  • Japan
  • Male
  • Mutation, Missense
  • SOXE Transcription Factors / genetics*
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology
  • Young Adult

Substances

  • SOX10 protein, human
  • SOXE Transcription Factors

Supplementary concepts

  • Waardenburg syndrome type 2