We report a characteristic lymphatic phenotype associated with the Noonan and CFC spectrum of the RASopathies in a series of 11 cases. This is characterised by lower limb lymphoedema with genital ...

Noonan syndrome (NS ... including a considerable number of cases with an attenuated or atypical phenotype. Additionally, individuals with suspected NS who were newly referred to our center ...

Turner syndrome, which is found only in females, is differentiated from Noonan syndrome by demonstration of a sex chromosome abnormality in cytogenetic studies. Furthermore, the phenotype of ...

Noonan syndrome is a condition notable both ... With total penetrance but variable expressivity, the phenotype of this autosomal dominant disorder ranges from mild cases (often unrecognized ...