Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene

J Med Genet. 2004 Feb;41(2):e15. doi: 10.1136/jmg.2003.009274.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anodontia / genetics*
  • Chromosomes, Human, Pair 1 / genetics
  • Cleft Lip / genetics*
  • Cleft Palate / genetics*
  • DNA / metabolism
  • DNA-Binding Proteins / genetics*
  • Female
  • Foot Deformities, Congenital / genetics*
  • Genes, Dominant
  • Genetic Linkage / genetics
  • Humans
  • Interferon Regulatory Factors
  • Lip / abnormalities*
  • Male
  • Mutation / genetics*
  • Pedigree
  • Protein Binding / genetics
  • Protein Structure, Tertiary / genetics
  • Proteins / metabolism
  • Syndrome
  • Transcription Factors / genetics*
  • Uvula / abnormalities*

Substances

  • DNA-Binding Proteins
  • IRF6 protein, human
  • Interferon Regulatory Factors
  • Proteins
  • Transcription Factors
  • DNA

Associated data

  • OMIM/119300
  • OMIM/119500