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Titel:

European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe.

Dokumenttyp:
Journal Article
Autor(en):
García-Miñaúr, Sixto; Burkitt-Wright, Emma; Verloes, Alain; Shaikh, Guftar; Lebl, Jan; Östman-Smith, Ingegerd; Wolf, Cordula M; Ortega Castelló, Eduardo; Tartaglia, Marco; Zenker, Martin; Edouard, Thomas
Abstract:
INTRODUCTION: Noonan syndrome (NS) is a rare genetic disorder caused by mutations in genes encoding components of the RAS/mitogen-activated protein kinase (MAPK) signalling pathway. Patients with NS exhibit certain characteristic features, including cardiac defects, short stature, distinctive facial appearance, skeletal abnormalities, cognitive deficits, and predisposition to certain cancers. Here, a clinical practice survey was developed to learn more about differences in the diagnosis and mana...     »
Zeitschriftentitel:
Eur J Med Genet
Jahr:
2022
Band / Volume:
65
Heft / Issue:
1
Volltext / DOI:
doi:10.1016/j.ejmg.2021.104371
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34757053
Print-ISSN:
1769-7212
TUM Einrichtung:
Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert)
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