IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation

Circulation. 2009 Mar 10;119(9):1328-9. doi: 10.1161/CIRCULATIONAHA.108.792861.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Biopsy
  • Coronary Angiography
  • Echocardiography
  • Female
  • Humans
  • LEOPARD Syndrome / diagnosis*
  • LEOPARD Syndrome / genetics*
  • Magnetic Resonance Imaging
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*

Substances

  • PTPN11 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 11