TY  - JOUR
AU  - García-Minaúr, Sixto
AU  - Burkitt-Wright, Emma
AU  - Verloes, Alain
AU  - Shaikh, Guftar
AU  - Lebl, Jan
AU  - Ostman-Smith, Ingegerd
AU  - Wolf, Cordula M.
AU  - Ortega Castelló, Eduardo
AU  - Tartaglia, Marco
AU  - Zenker, Martin
AU  - Edouard, Thomas
AU  - Verloes, Alain
PY  - 2021
DO  - 10.1016/j.ejmg.2021.104371
SN  - 1769-7212
UR  - https://hdl.handle.net/20.500.14352/104444
T2  - European Journal of Medical Genetics
AB  - 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...
LA  - eng
M2  - 104371
PB  - Elsevier
KW  - Noonan syndrome
KW  - Europe
KW  - RASopathy
KW  - Clinical practice survey
KW  - RAS/MAPK signalling Pathway
KW  - Clinical management
TI  - European Medical Education Initiative on Noonan syndrome: A clinical practice survey assessing the diagnosis and clinical management of individuals with Noonan syndrome across Europe
TY  - journal article
VL  - 65
ER  -