Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

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

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Resumé

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.

OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind177
Udgave nummer32
Sider (fra-til)V12140755
ISSN0041-5782
StatusUdgivet - 3. aug. 2015

Fingeraftryk

Noonan Syndrome
Germ-Line Mutation

Citer dette

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Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk. / Krab Henningsen, Marie; Jelsig, Anne Marie; Andersen, Helle; Brusgaard, Klaus; Ousager, Lilian Bomme; Hertz, Jens Michael.

I: Ugeskrift for Laeger, Bind 177, Nr. 32, 03.08.2015, s. V12140755.

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

TY - JOUR

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AU - Krab Henningsen, Marie

AU - Jelsig, Anne Marie

AU - Andersen, Helle

AU - Brusgaard, Klaus

AU - Ousager, Lilian Bomme

AU - Hertz, Jens Michael

PY - 2015/8/3

Y1 - 2015/8/3

N2 - 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.

AB - 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.

KW - English Abstract

KW - Journal Article

M3 - Tidsskriftartikel

VL - 177

SP - V12140755

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

SN - 0041-5782

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