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Table 1 Clinical features in PTPN11 pathogenic variant positive patients in the present study

From: Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations

Craniofacial characteristicsPercentage ofPTPN11positive patientsCardiac defectsPercentage ofPTPN11positive patients
Broad/High forehead31.7Hypertrophic cardiomyopathy8.5
Hypertelorism50Atrial septal defect35.3
Ptosis54.8Ventricular septal defect4.8
Downward Slanting palpebral fissures84Pulmonary stenosis35.3
Low set ears67
Systemic CharacteristicsPercentage ofPTPN11positive patientsSkin/Hair AbnormalitiesPercentage ofPTPN11positive patients
Short Stature40Dry Skin4.8
Webbed Neck/Low Posterior Hairline60.9Curly hair/woolly hair8.5
Pectus abnormalities53.6Café au lait patches9.75
Widely spaced nipples34.14  
Cubitus Valgus12.19