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Differences in severity of cardiovascular anomalies in children with Noonan syndrome based on the causative gene

BACKGROUND: Noonan syndrome (NS) is a genetic syndrome, characterized by various dysmorphic features, cardiac anomalies, short stature, and developmental delay. NS is a leading cause of cardiovascular anomalies. The syndrome results from dysregulation in the RAS-MAPK pathway and is related to the RA...

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Detalles Bibliográficos
Autores principales: Shehade-Awwad, Nagham, Yeshayahu, Yonatan, Pinhas-Hamiel, Orit, Katz, Uriel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9492920/
https://www.ncbi.nlm.nih.gov/pubmed/36160796
http://dx.doi.org/10.3389/fped.2022.946071