Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum

Am J Med Genet A. 2006 Jun 15;140(12):1343-5. doi: 10.1002/ajmg.a.31285.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • DNA Mutational Analysis
  • Funnel Chest / genetics*
  • Humans
  • Infant, Newborn
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Laryngeal Diseases / genetics*
  • Male
  • Mutation*
  • Nuclear Proteins / genetics*
  • Protein Tyrosine Phosphatases / genetics*
  • Retrognathia / genetics*

Substances

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