Atypical radiological findings in achondroplasia with uncommon mutation of the fibroblast growth factor receptor-3 (FGFR-3) gene (Gly to Cys transition at codon 375)

Am J Med Genet. 1995 Nov 20;59(3):393-5. doi: 10.1002/ajmg.1320590325.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Achondroplasia / diagnostic imaging
  • Achondroplasia / genetics*
  • Achondroplasia / pathology
  • Codon / genetics*
  • DNA Mutational Analysis
  • Femur / diagnostic imaging*
  • Femur / pathology
  • Growth Plate / diagnostic imaging*
  • Growth Plate / pathology
  • Humans
  • Infant, Newborn
  • Male
  • Protein-Tyrosine Kinases*
  • Radiography
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Spine / diagnostic imaging*
  • Spine / pathology
  • Tibia / diagnostic imaging*
  • Tibia / pathology

Substances

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