A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

J Med Genet. 2004 Aug;41(8):e106. doi: 10.1136/jmg.2004.018333.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Australia
  • Cataract / congenital*
  • Cataract / genetics*
  • Child
  • Child, Preschool
  • Connexins / genetics*
  • Female
  • Genes, Dominant / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Pedigree
  • Penetrance*

Substances

  • Connexins
  • GJA3 protein, human