Does SNAI2 mutation cause human piebaldism and Waardenburg syndrome?

Am J Med Genet A. 2020 Dec;182(12):3074-3075. doi: 10.1002/ajmg.a.61887. Epub 2020 Sep 25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • Piebaldism / etiology
  • Piebaldism / pathology*
  • Snail Family Transcription Factors / genetics*
  • Waardenburg Syndrome / etiology
  • Waardenburg Syndrome / pathology*

Substances

  • SNAI2 protein, human
  • Snail Family Transcription Factors