Familial transmission of oculoauriculovertebral spectrum (Goldenhar syndrome) is not due to mutations in either EYA1 or SALL1

Am J Med Genet A. 2009 Mar;149A(3):535-8. doi: 10.1002/ajmg.a.32673.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Family*
  • Female
  • Goldenhar Syndrome / genetics*
  • Humans
  • Infant
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Mutation*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Protein Tyrosine Phosphatases / genetics*
  • Transcription Factors / genetics*
  • Young Adult

Substances

  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • SALL1 protein, human
  • Transcription Factors
  • EYA1 protein, human
  • Protein Tyrosine Phosphatases