TFAP2A mutation in a child and mother with predominantly ocular anomalies: non-classical presentation of branchio-oculo-facial syndrome

Clin Dysmorphol. 2019 Oct;28(4):215-218. doi: 10.1097/MCD.0000000000000290.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Branchio-Oto-Renal Syndrome / diagnosis*
  • Branchio-Oto-Renal Syndrome / genetics*
  • Child
  • Eye Abnormalities / diagnosis*
  • Eye Abnormalities / genetics*
  • Facies
  • Female
  • Humans
  • Infant
  • Mutation*
  • Phenotype*
  • Transcription Factor AP-2 / genetics*

Substances

  • TFAP2A protein, human
  • Transcription Factor AP-2