Hypochondroplasia and stature within normal limits: another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

Am J Med Genet A. 2003 May 15;119A(1):81-4. doi: 10.1002/ajmg.a.10238.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Amino Acid Substitution*
  • Bone and Bones / abnormalities*
  • Humans
  • Infant
  • Limb Deformities, Congenital / genetics*
  • Limb Deformities, Congenital / physiopathology
  • Male
  • Pelvic Bones / diagnostic imaging
  • Pelvic Bones / pathology
  • Protein-Tyrosine Kinases*
  • Radiography
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Receptors, Fibroblast Growth Factor / metabolism
  • Spine / diagnostic imaging
  • Spine / pathology

Substances

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

Associated data

  • OMIM/146000