Familial craniosynostosis due to Pro250Arg mutation in the fibroblast growth factor receptor 3 gene

Ulster Med J. 2001 May;70(1):47-50.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosomes, Human, Pair 4 / genetics*
  • Craniosynostoses / genetics*
  • Female
  • Humans
  • Infant
  • Mutation*
  • Pedigree
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*

Substances

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