Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations

Clin Dysmorphol. 2011 Jan;20(1):11-14. doi: 10.1097/MCD.0b013e32833f138c.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anus, Imperforate / complications*
  • Child
  • Child, Preschool
  • Female
  • Goldenhar Syndrome / complications
  • Goldenhar Syndrome / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Mutation / genetics*
  • Pregnancy
  • Radiography
  • Spine / diagnostic imaging
  • Transcription Factors / genetics*

Substances

  • SALL1 protein, human
  • Transcription Factors