Letter to the editor: Novel GJA1 mutation in oculodentodigital dysplasia

Am J Med Genet A. 2005 Nov 15;139(1):48-9. doi: 10.1002/ajmg.a.30925.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Connexin 43 / genetics*
  • Eye Abnormalities / genetics*
  • Female
  • Fingers / abnormalities
  • Humans
  • Middle Aged
  • Polymorphism, Restriction Fragment Length
  • Syndactyly / genetics*
  • Syndrome
  • Toes / abnormalities
  • Tooth Abnormalities / genetics*

Substances

  • Connexin 43
  • GJA1 protein, human