Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

J Med Genet. 2005 Aug;42(8):656-62. doi: 10.1136/jmg.2004.027888.
No abstract available

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Craniosynostoses / genetics*
  • Craniosynostoses / pathology
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Models, Molecular
  • Mutation*
  • Pedigree
  • Protein Structure, Tertiary / genetics
  • Receptor, Fibroblast Growth Factor, Type 2 / chemistry
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*
  • Skull / abnormalities*
  • Skull / pathology
  • Syndrome

Substances

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