2008•European Journal of Medical GeneticsRequires access

Clinical and molecular characterization of 40 patients with Noonan syndrome

Giovanni Battista Ferrero, Giuseppina Baldassarre, Angelo Giovanni Delmonaco, Elisa Biamino, Elena Banaudi, Claudio Carta, Cesare Rossi, Margherita Silengo

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Key concepts: PTPN11, Noonan syndrome, KRAS, Missense mutation, Short stature, Genetics, Mutation, Genetic heterogeneity

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Clinical and molecular characterization of 40 patients with Noonan syndrome — Research Paper | ScholarLens