A novel mutation p.Ser348Cys in FGFR3 causes achondroplasia

Am J Med Genet A. 2016 May;170A(5):1370-2. doi: 10.1002/ajmg.a.37557. Epub 2016 Jan 11.
No abstract available

Publication types

  • Letter

MeSH terms

  • Achondroplasia / diagnostic imaging
  • Achondroplasia / genetics*
  • Achondroplasia / physiopathology*
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mutation
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3