Second trimester molecular diagnosis of a stop codon FGFR3 mutation in a type I thanatophoric dysplasia fetus following abnormal ultrasound findings

Prenat Diagn. 2002 Aug;22(8):736-7. doi: 10.1002/pd.377.
No abstract available

Publication types

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

MeSH terms

  • Adult
  • Female
  • Humans
  • Mutation*
  • Pregnancy
  • Pregnancy Trimester, Second
  • Protein-Tyrosine Kinases*
  • Receptor, Fibroblast Growth Factor, Type 3
  • Receptors, Fibroblast Growth Factor / genetics*
  • Thanatophoric Dysplasia / diagnostic imaging
  • Thanatophoric Dysplasia / genetics*
  • Ultrasonography, Prenatal*

Substances

  • Receptors, Fibroblast Growth Factor
  • FGFR3 protein, human
  • Protein-Tyrosine Kinases
  • Receptor, Fibroblast Growth Factor, Type 3