Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr-381 residue in FGFR2 gene

Clin Genet. 2014 Jun;85(6):598-9. doi: 10.1111/cge.12213. Epub 2013 Jun 27.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Asparagine / genetics
  • Bone Diseases, Developmental / genetics*
  • Bone Diseases, Developmental / pathology
  • Child, Preschool
  • Craniofacial Dysostosis / genetics*
  • Craniofacial Dysostosis / pathology
  • Female
  • Humans
  • Male
  • Mutation, Missense*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Tyrosine / genetics

Substances

  • Tyrosine
  • Asparagine
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2