Ugeskr Læger 2015;177:V12140755
Noonan syndrome can be diagnosed clinically and through molecular genetic analyses
Noonan syndrome is part of the group of RASopathies caused by germline mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic overlap among the RASopathies. Diagnosis of Noonan syndrome is often based on clinical features including dysmorphic facial features, short stature and congenital heart disease. Rapid advances in sequencing technology have made molecular genetic analyses a helpful tool in diagnosing and distinguishing Noonan syndrome from other RASopathies.