Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients
George Papadopoulos, Anna Papadopoulou, Konstantina Kosma, Anastasios Papadimitriou, Vassiliki Papaevangelou, Christina Kanaka‐Gantenbein, Evangelia Bountouvi, Sophia Kitsiou‐Tzeli
Topics & Concepts
Noonan syndromePTPN11KRASMedicineNeuroblastoma RAS viral oncogene homologCohortSanger sequencingPopulationInternal medicineGeneticsGastroenterologyGeneMutationBiologyCancerColorectal cancerEnvironmental healthProtein Tyrosine PhosphatasesRNA modifications and cancerGlycogen Storage Diseases and Myoclonus