FGFR2 splice site mutations in Crouzon and Pfeiffer syndromes: two novel variants

Clin Genet. 2016 Jun;89(6):746-8. doi: 10.1111/cge.12705. Epub 2016 Feb 3.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Craniofacial Dysostosis / genetics*
  • Craniofacial Dysostosis / pathology
  • Female
  • Humans
  • Male
  • Mutation*
  • Phenotype
  • RNA Splice Sites / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*

Substances

  • RNA Splice Sites
  • FGFR2 protein, human
  • Receptor, Fibroblast Growth Factor, Type 2