Japanese case of oculodentodigital dysplasia caused by a mutation in the GJA1 gene

J Dermatol. 2014 Dec;41(12):1109-10. doi: 10.1111/1346-8138.12656. Epub 2014 Oct 20.
No abstract available

Publication types

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

MeSH terms

  • Child, Preschool
  • Connexin 43 / genetics*
  • Craniofacial Abnormalities / genetics*
  • Eye Abnormalities / genetics*
  • Foot Deformities, Congenital / genetics*
  • Humans
  • Male
  • Mutation, Missense
  • Syndactyly / genetics*
  • Tooth Abnormalities / genetics*

Substances

  • Connexin 43
  • GJA1 protein, human

Supplementary concepts

  • Oculodentodigital Dysplasia