Noonan syndrome (NS) is characterized by characteristic facies, short stature, congenital
heart defect, and developmental delay of variable degree. Other findings can include broad …

Objectives To characterize the bleeding phenotype in Noonan syndrome (NS), to test the
utility of following national guidelines in detecting this phenotype, to evaluate …

Background Noonan syndrome (NS) is a relatively rare inherited disease. Typical clinical
presentation is important for the diagnosis of NS. But the initial presentation of NS could be …

Background Bleeding anomalies have been reported in patients affected by Noonan
syndrome. No study has been performed in patients with molecularly confirmed RASopathy …

Objectives: Summarize the pathophysiology of Noonan syndrome. Review the symptoms
associated with Noonan syndrome. Explain how to evaluate for Noonan syndrome. Describe …

Abstract Tatton-Brown-Rahman syndrome (TBRS) is characterized by overgrowth, cognitive
deficiency, and distinctive facial features resulting from germline DNMT3A variants. This …

Background This study aimed to evaluate the bleeding phenotype and to conduct a
comprehensive hemostatic evaluation in individuals with Noonan syndrome (NS), a …

Key Clinical Message With no family history, and an atypical phenotype, the clinical
diagnosing of Noonan syndrome (NS) can be very difficult. The present case emphasized …

Objectives Noonan syndrome is a rare genetic disorder characterized mainly by congenital
heart disease, occasional intellectual disability, and varied orthopaedic, rheumatological …

Résumé Objectifs Le syndrome de Noonan est une maladie génétique rare qui se
caractérise principalement par des malformations cardiothoraciques, parfois un retard …