A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

Am J Med Genet A. 2008 Apr 15;146A(8):1032-7. doi: 10.1002/ajmg.a.32181.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • DNA-Binding Proteins / genetics*
  • Hearing Loss, Sensorineural / diagnosis
  • Hearing Loss, Sensorineural / genetics
  • Hearing Loss, Sensorineural / physiopathology
  • High Mobility Group Proteins / genetics*
  • Humans
  • Infant
  • Male
  • Mutation, Missense*
  • SOXE Transcription Factors
  • Spain
  • Transcription Factors / genetics*
  • Waardenburg Syndrome / diagnosis
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / physiopathology

Substances

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