Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling

Clin Dysmorphol. 2009 Oct;18(4):225-7. doi: 10.1097/MCD.0b013e32832d4a87.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Female
  • Genetic Counseling*
  • Humans
  • Infant
  • Infant, Newborn
  • Interferon Regulatory Factors / genetics*
  • Mutation / genetics*
  • Phenotype
  • Pregnancy
  • Pterygium / complications*
  • Pterygium / genetics*
  • Pterygium / pathology
  • Sequence Analysis, DNA
  • Syndrome

Substances

  • IRF6 protein, human
  • Interferon Regulatory Factors