Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene

Hum Mutat. 1996;8(4):386-90. doi: 10.1002/(SICI)1098-1004(1996)8:4<386::AID-HUMU18>3.0.CO;2-Z.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Base Sequence
  • Child
  • Chromosome Mapping
  • Chromosomes, Human, Pair 10
  • Craniofacial Dysostosis / genetics*
  • Exons
  • Female
  • Genes, Dominant
  • Humans
  • Male
  • Multigene Family*
  • Pedigree
  • Point Mutation*
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics*
  • Sequence Deletion*

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR2 protein, human
  • Receptor Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 2