A homozygous PAX3 mutation leading to severe presentation of Waardenburg syndrome with a prenatal diagnosis

Prenat Diagn. 2015 Dec;35(13):1379-81. doi: 10.1002/pd.4703. Epub 2015 Nov 3.
No abstract available

Publication types

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

MeSH terms

  • Female
  • Homozygote
  • Humans
  • Nuchal Translucency Measurement
  • PAX3 Transcription Factor
  • Paired Box Transcription Factors / genetics*
  • Pregnancy
  • Waardenburg Syndrome / diagnostic imaging
  • Waardenburg Syndrome / genetics*
  • Young Adult

Substances

  • PAX3 Transcription Factor
  • PAX3 protein, human
  • Paired Box Transcription Factors