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Noonans syndrom kan diagnosticeres klinisk og molekylærgenetisk

Niårig pige med Noonans syndrom og mutation i PTPN11: c.178G>A; p.(Gly60Ser) i heterozygot form.
Forfatter(e)
Marie Krab Henningsen1, Anne Marie Jelsig1, 2, Helle Andersen3, Klaus Brusgaard1, Lilian Bomme Ousager1 & Jens Michael Hertz1 1) Klinisk Genetisk Afdeling, Odense Universitetshospital 2) Klinisk Institut, Syddansk Universitet 3) H.C. Andersen Børnehospital, Odense Universitetshospital Ugeskr Læger 2015;177:V12140755
Reference: 
Ugeskr Læger 2015;177:V12140755
Blad nummer: 
Sidetal: 
2-7
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.
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