Noonan syndrome is part of the group of RASopathies caused by germ line 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.
|Bidragets oversatte titel||Noonan syndrome can be diagnosed clinically and through molecular genetic analyses|
|Tidsskrift||Ugeskrift for Laeger|
|Status||Udgivet - 3. aug. 2015|