Missense and deletion mutations in GJA1 causing oculodentodigital dysplasia in two Indian families

Clin Dysmorphol. 2015 Oct;24(4):159-62. doi: 10.1097/MCD.0000000000000094.
No abstract available

Publication types

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

MeSH terms

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

Substances

  • Connexin 43
  • GJA1 protein, human

Supplementary concepts

  • Oculodentodigital Dysplasia