Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?

Am J Med Genet A. 2021 Apr;185(4):1304-1306. doi: 10.1002/ajmg.a.62075. Epub 2021 Jan 13.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Epigenesis, Genetic / genetics*
  • Genetic Association Studies
  • Humans
  • Infant
  • Male
  • Microphthalmia-Associated Transcription Factor / genetics
  • Mosaicism*
  • SOXE Transcription Factors / genetics
  • Snail Family Transcription Factors / genetics
  • Stem Cell Factor / genetics
  • Waardenburg Syndrome / diagnosis
  • Waardenburg Syndrome / genetics*
  • Waardenburg Syndrome / pathology

Substances

  • KITLG protein, human
  • MITF protein, human
  • Microphthalmia-Associated Transcription Factor
  • SNAI2 protein, human
  • SOX10 protein, human
  • SOXE Transcription Factors
  • Snail Family Transcription Factors
  • Stem Cell Factor

Supplementary concepts

  • Waardenburg syndrome type 2