Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

Abstract excerpt

The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cafe-au-Lait Spots
• Share to Costello Syndrome