Noonans syndrom kan diagnosticeres klinisk og molekylaergenetisk
Sammanfattning
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.