SOX10 mutation in Waardenburg syndrome type II

Am J Med Genet A. 2008 Aug 15;146A(16):2162-3. doi: 10.1002/ajmg.a.32403.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • DNA-Binding Proteins / genetics*
  • Female
  • Frameshift Mutation*
  • Heterozygote
  • High Mobility Group Proteins / genetics*
  • Humans
  • Infant
  • SOXE Transcription Factors
  • Transcription Factors / genetics*
  • Waardenburg Syndrome / genetics*

Substances

  • DNA-Binding Proteins
  • High Mobility Group Proteins
  • SOX10 protein, human
  • SOXE Transcription Factors
  • Transcription Factors