Clinical and radiographic features of a family with hypochondroplasia owing to a novel Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

J Med Genet. 2000 Mar;37(3):220-4. doi: 10.1136/jmg.37.3.220.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Achondroplasia / diagnostic imaging
  • Achondroplasia / genetics*
  • Amino Acid Substitution
  • Asparagine / genetics
  • Child
  • Female
  • Humans
  • Mutation
  • Protein-Tyrosine Kinases*
  • Radiography
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Serine / genetics

Substances

  • Receptors, Fibroblast Growth Factor
  • Serine
  • Asparagine
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3