FGFR2 gene mutation (Tyr375Cys) in a new case of Beare-Stevenson syndrome

Am J Med Genet. 1998 Apr 1;76(4):362-4.
No abstract available

Publication types

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

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Base Sequence
  • Craniosynostoses / genetics*
  • Exons
  • Female
  • Humans
  • Infant, Newborn
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Receptors, Fibroblast Growth Factor / genetics*
  • Syndrome

Substances

  • Receptors, Fibroblast Growth Factor