Patient with an EYA1 mutation with features of branchio-oto-renal and oto-facio-cervical syndrome

Clin Dysmorphol. 2006 Oct;15(4):211-212. doi: 10.1097/01.mcd.0000204986.54366.7c.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Branchial Region / abnormalities
  • Child, Preschool
  • Craniofacial Abnormalities / genetics
  • Craniofacial Abnormalities / pathology
  • Ear / abnormalities
  • Hearing Loss, Mixed Conductive-Sensorineural / genetics
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Kidney / abnormalities
  • Male
  • Mutation*
  • Nuclear Proteins / genetics*
  • Phenotype
  • Protein Tyrosine Phosphatases / genetics*
  • Scapula / abnormalities
  • Syndrome

Substances

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