Prenatal identification of a G338E mutation in FGFR2 in a fetus without sonographic appearance of craniosynostosis

Prenat Diagn. 2003 Feb;23(2):175-6. doi: 10.1002/pd.523.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Amniocentesis
  • Craniosynostoses / diagnostic imaging*
  • Female
  • Genetic Counseling
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mutation, Missense*
  • Point Mutation*
  • Pregnancy
  • Pregnancy Trimester, Second
  • Prenatal Diagnosis*
  • Radiography
  • Receptor Protein-Tyrosine Kinases / genetics*
  • Receptor, Fibroblast Growth Factor, Type 2
  • Receptors, Fibroblast Growth Factor / genetics*
  • Skull / diagnostic imaging
  • Skull / embryology
  • Ultrasonography

Substances

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