Noonan Syndrome

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  Subject Areas on Research

  • Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. 
  • High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation. 
  • Supraventricular tachycardia terminated by external mechanical stimulation: a case of "pothole conversion". 
  • The cardiofaciocutaneous syndrome.