title: [Noonan syndrome can be diagnosed clinically and through molecular genetic analyses].
abstract: 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.
authors: Klinisk Genetisk Afdeling, Odense Universitetshospital, Sdr. Boulevard 29, 5000 Odense C. jens.michael.hertz@rsyd.dk.
authors: Marie Krab
authors: MK
authors: Henningsen
authors: Anne Marie
authors: AM
authors: Jelsig
authors: Helle
authors: H
authors: Andersen
authors: Klaus
authors: K
authors: Brusgaard
authors: Lilian Bomme
authors: LB
authors: Ousager
authors: Jens Michael
authors: JM
authors: Hertz
mesh_terms: D006801:Humans; D020935:MAP Kinase Signaling System; D009634:Noonan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D018631:ras Proteins / Q000502:physiology
chemical_list: D018631:ras Proteins