The "old theme" of variability versus transitory phenotypes in thanatophoric dysplasia type 1: two 19-week-old fetuses with ("San Diego" variant) and without ragged metaphyses due to the same FGFR3 mutation

Am J Med Genet A. 2013 Oct;161A(10):2675-7. doi: 10.1002/ajmg.a.36131. Epub 2013 Aug 16.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Abortion, Induced
  • Adult
  • Female
  • Genotype
  • Humans
  • Male
  • Mutation*
  • Phenotype*
  • Pregnancy
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*
  • Thanatophoric Dysplasia / diagnosis
  • Thanatophoric Dysplasia / genetics*

Substances

  • Receptor, Fibroblast Growth Factor, Type 3