EEC syndrome-like phenotype in a patient with an IRF6 mutation

Am J Med Genet A. 2012 May;158A(5):1219-20. doi: 10.1002/ajmg.a.35273. Epub 2012 Apr 9.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cleft Lip / diagnosis*
  • Cleft Lip / genetics
  • Cleft Lip / pathology
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics
  • Cleft Palate / pathology
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / pathology
  • Female
  • Humans
  • Interferon Regulatory Factors / genetics*
  • Mutation*
  • Phenotype

Substances

  • IRF6 protein, human
  • Interferon Regulatory Factors

Supplementary concepts

  • Ectrodactyly-cleft lip-palate syndrome