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A Rare Mutation In Noonan Syndrome

Noonan Syndrome (NS) is a genetic disorder mainly characterized by short stature, distinctive facial features, congenital heart defects, cardiomyopathy and an increased risk to develop tumors in childhood. The incidence is estimated to be between 1:1000 and 1:2500 live births. Mutations in PTPN11 (12q24.13) are seen in 50% of cases.