An autosomal recessive cone-rod dystrophy associated with amelogenesis imperfecta

J Med Genet. 2004 Jun;41(6):468-73. doi: 10.1136/jmg.2003.015792.
No abstract available

Publication types

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

MeSH terms

  • Amelogenesis Imperfecta / genetics
  • Amelogenesis Imperfecta / pathology*
  • Animals
  • Child
  • Chromosomes, Human, Pair 2 / genetics
  • Corneal Dystrophies, Hereditary / pathology
  • Cyclic Nucleotide-Gated Cation Channels
  • DNA / chemistry
  • DNA / genetics
  • DNA Mutational Analysis
  • Dental Enamel / abnormalities
  • Family Health
  • Female
  • Gene Expression Regulation, Developmental
  • Genes, Recessive / genetics*
  • Genotype
  • Humans
  • Ion Channels / genetics
  • Male
  • Mice
  • Microsatellite Repeats
  • Pedigree
  • Phenotype
  • Photoreceptor Cells, Vertebrate / metabolism
  • Photoreceptor Cells, Vertebrate / pathology*
  • Retinal Degeneration / pathology
  • Tooth / embryology
  • Tooth / growth & development
  • Tooth / metabolism

Substances

  • Cyclic Nucleotide-Gated Cation Channels
  • Ion Channels
  • DNA