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

AuthorsKara Goodin, Sandra Prucka, Audie L Woolley, Juergen Kohlhase, Richard J H Smith, John Grant, Nathaniel H Robin
JournalAmerican journal of medical genetics. Part A (Am J Med Genet A) Vol. 149A Issue 3 Pg. 535-8 (Mar 2009) ISSN: 1552-4833 [Electronic] United States
PMID19213029 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Intracellular Signaling Peptides and Proteins
  • Nuclear Proteins
  • SALL1 protein, human
  • Transcription Factors
  • EYA1 protein, human
  • Protein Tyrosine Phosphatases
Topics
  • 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

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