A severe progressive oculodentodigital dysplasia due to compound heterozygous GJA1 mutation

Clin Genet. 2010 Jul;78(1):94-7. doi: 10.1111/j.1399-0004.2010.01412.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Connexin 43 / genetics*
  • Eye Abnormalities / genetics*
  • Heterozygote
  • Humans
  • Male
  • Tooth Abnormalities / genetics*

Substances

  • Connexin 43
  • GJA1 protein, human