Achondroplasia and nail-patella syndrome: the compound phenotype

J Med Genet. 2000 Sep;37(9):E25. doi: 10.1136/jmg.37.9.e25.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Achondroplasia / genetics*
  • Achondroplasia / pathology
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Homeodomain Proteins / genetics*
  • Humans
  • Infant
  • LIM-Homeodomain Proteins
  • Male
  • Mutation
  • Nail-Patella Syndrome / genetics*
  • Nail-Patella Syndrome / pathology
  • Phenotype
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Transcription Factors

Substances

  • Homeodomain Proteins
  • LIM homeobox transcription factor 1 beta
  • LIM-Homeodomain Proteins
  • Receptors, Fibroblast Growth Factor
  • Transcription Factors
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3