Novel c.358C>T mutation of SOX9 gene in prenatal diagnosis of campomelic dysplasia

Congenit Anom (Kyoto). 2014 Aug;54(3):193-4. doi: 10.1111/cga.12054.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Base Sequence
  • Campomelic Dysplasia / diagnostic imaging*
  • Campomelic Dysplasia / genetics
  • DNA Mutational Analysis
  • Female
  • Humans
  • Molecular Diagnostic Techniques
  • Point Mutation*
  • SOX9 Transcription Factor / genetics*
  • Ultrasonography, Prenatal

Substances

  • SOX9 Transcription Factor
  • SOX9 protein, human