Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

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

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 tidsskrift › Tidsskriftartikel › Forskning › peer review

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 titel	Noonan syndrome can be diagnosed clinically and through molecular genetic analyses
Originalsprog	Dansk
Tidsskrift	Ugeskrift for Læger
Vol/bind	177
Udgave nummer	32
Sider (fra-til)	V12140755
ISSN	0041-5782
Status	Udgivet - 3. aug. 2015

Dokumenter og links

http://ugeskriftet.dk.proxy1-bib.sdu.dk:2048/videnskab/noonans-syndrom-kan-diagnosticeres-klinisk-og-molekylaergenetisk

Citationsformater

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T1 - Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

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

C2 - 26321587

SN - 0041-5782

VL - 177

SP - V12140755

JO - Ugeskrift for Læger

JF - Ugeskrift for Læger

IS - 32

ER -

Noonans syndrom kan diagnosticere sklinisk og molekylærgenetisk

Abstrakt

Dokumenter og links

Fingeraftryk

Citationsformater