Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

Marie Krab Henningsen, Anne Marie Jelsig, Helle Andersen, Klaus Brusgaard, Lilian Bomme Ousager, Jens Michael Hertz

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Abstrakt

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 titelNoonan syndrome can be diagnosed clinically and through molecular genetic analyses
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind177
Udgave nummer32
Sider (fra-til)V12140755
ISSN0041-5782
StatusUdgivet - 3. aug. 2015

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