OCULO-DENTO-DIGITAL DYSPLASIA IN A TUNISIAN FAMILY WITH A NOVEL GJA1 MUTATION

Genet Couns. 2016;27(3):433-439.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adult
  • Chromosome Aberrations
  • Connexin 43 / genetics*
  • Craniofacial Abnormalities / diagnosis
  • Craniofacial Abnormalities / genetics*
  • DNA Mutational Analysis*
  • Exons / genetics
  • Eye Abnormalities / diagnosis
  • Eye Abnormalities / genetics*
  • Female
  • Foot Deformities, Congenital / diagnosis
  • Foot Deformities, Congenital / genetics*
  • Genes, Dominant
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Syndactyly / diagnosis
  • Syndactyly / genetics*
  • Tooth Abnormalities / diagnosis
  • Tooth Abnormalities / genetics*
  • Tunisia

Substances

  • Connexin 43
  • GJA1 protein, human

Supplementary concepts

  • Oculodentodigital Dysplasia