First-trimester molecular prenatal diagnosis of a thanatophoric dysplasia

Prenat Diagn. 2010 Dec;30(12-13):1222-3. doi: 10.1002/pd.2638.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Chorionic Villi Sampling
  • Female
  • Humans
  • Middle Aged
  • Molecular Diagnostic Techniques / methods*
  • Pregnancy
  • Pregnancy Trimester, First*
  • Prenatal Diagnosis / methods*
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics
  • Thanatophoric Dysplasia / diagnosis*
  • Thanatophoric Dysplasia / diagnostic imaging
  • Thanatophoric Dysplasia / genetics
  • Ultrasonography

Substances

  • FGFR3 protein, human
  • Receptor, Fibroblast Growth Factor, Type 3