Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes

Prenat Diagn. 2010 Mar;30(3):284-6. doi: 10.1002/pd.2458.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Abortion, Eugenic
  • Adult
  • Amniocentesis
  • DNA Mutational Analysis*
  • Female
  • Humans
  • Male
  • Mutation
  • Noonan Syndrome / diagnosis*
  • Noonan Syndrome / genetics
  • Nuchal Translucency Measurement
  • Pregnancy
  • Prenatal Diagnosis / methods*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / metabolism
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins / metabolism
  • Proto-Oncogene Proteins p21(ras)
  • Ultrasonography, Prenatal
  • ras Proteins / genetics*
  • ras Proteins / metabolism

Substances

  • KRAS protein, human
  • Proto-Oncogene Proteins
  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11
  • Proto-Oncogene Proteins p21(ras)
  • ras Proteins