Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.

Abstract excerpt

RASopathies are a group of syndromes caused by germline mutations of the RAS/MAPK pathway. They include Noonan syndrome, cardio-facio-cutaneous syndrome, Costello syndrome, and Noonan syndrome with multiple lentigines, which share many characteristic features including cardiac abnormalities. Here, we retrospectively reviewed the clinical manifestations and evaluated the genotype-phenotype associations with...

Topics

• Child
• Child, Preschool
• Ectodermal Dysplasia
• Facies
• Failure to Thrive
• Heart Defects, Congenital
• Humans
• Mutation
• Noonan Syndrome