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RAF-1 Mutation Associated with a Risk for Ventricular Arrhythmias in a Child with Noonan Syndrome and Cardiovascular Pathology

INTRODUCTION: Noonan syndrome (NS) is a dominant autosomal disease, caused by mutations in genes involved in cell differentiation, growth and senescence, one of them being RAF1 mutation. Congenital heart disease may influence the prognosis of the disease. CASE PRESENTATION: We report a case of an 18...

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Detalles Bibliográficos
Autores principales: Făgărășan, Amalia, Al Hussein, Hamida, Ghiragosian Rusu, Simina Elena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097645/
https://www.ncbi.nlm.nih.gov/pubmed/35950157
http://dx.doi.org/10.2478/jccm-2022-0007