S. Selim

An unusually severe hemorrhagic phenotype leading to prolonged diagnostic delay in PTPN11 variant Noonan syndrome

Background: Noonan syndrome is a RASopathy which carries autosomal dominant inheritance and is characterized by variable phenotypic expression involving craniofacial, cardiovascular, skeletal, hematological, and neurodevelopmental abnormalities. Bleeding manifestations are common and may result from platelet dysfunctio...