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Title:

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

Document type:
Journal Article
Author(s):
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...     »
Journal title abbreviation:
Eur J Med Genet
Year:
2022
Journal volume:
65
Journal issue:
1
Fulltext / DOI:
doi:10.1016/j.ejmg.2021.104371
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/34757053
Print-ISSN:
1769-7212
TUM Institution:
Klinik für Kinderkardiologie und angeborene Herzfehler (DHM) (Prof. Ewert)
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