Novel FGFR3 mutations in exon 7 and implications for expanded screening of achondroplasia and hypochondroplasia: a response to Heuertz et al

Eur J Hum Genet. 2008 Mar;16(3):277-8. doi: 10.1038/sj.ejhg.5201931. Epub 2007 Sep 26.
No abstract available

Publication types

  • Comment
  • Letter

MeSH terms

  • Achondroplasia / diagnosis
  • Achondroplasia / genetics*
  • Exons*
  • Female
  • Genetic Testing / methods*
  • Humans
  • Infant, Newborn
  • Male
  • Mutation*
  • Receptor, Fibroblast Growth Factor, Type 3 / genetics*

Substances

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