Clinical Utility Gene Card for: campomelic dysplasia

Eur J Hum Genet. 2013 Jul;21(7). doi: 10.1038/ejhg.2012.228. Epub 2012 Oct 10.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Campomelic Dysplasia / diagnosis*
  • Campomelic Dysplasia / genetics*
  • Campomelic Dysplasia / pathology
  • Genetic Testing
  • Humans
  • Mutation / genetics
  • SOX9 Transcription Factor / genetics*

Substances

  • SOX9 Transcription Factor
  • SOX9 protein, human