Detection of the S252W mutation in fibroblast growth factor receptor 2 (FGFR2) in fetal DNA from maternal plasma in a pregnancy affected by Apert syndrome

Prenat Diagn. 2011 Feb;31(2):218-20. doi: 10.1002/pd.2672. Epub 2011 Jan 4.
No abstract available

Publication types

  • Letter

MeSH terms

  • Acrocephalosyndactylia / diagnosis*
  • Acrocephalosyndactylia / genetics*
  • DNA / blood
  • Female
  • Humans
  • Mutation
  • Pregnancy
  • Prenatal Diagnosis
  • Receptor, Fibroblast Growth Factor, Type 2 / genetics*

Substances

  • DNA
  • Receptor, Fibroblast Growth Factor, Type 2