MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

The RAF1:p.Ser257Leu variant is associated with severe Noonan syndrome (NS), progressive hypertrophic cardiomyopathy (HCM), and pulmonary hypertension. Trametinib, a MEK-inhibitor approved for treatment of RAS/MAPK-mutated cancers, is an emerging treatment option for HCM in NS. We report a patient w...

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Detalles Bibliográficos
Autores principales: Mussa, Alessandro, Carli, Diana, Giorgio, Elisa, Villar, Anna Maria, Cardaropoli, Simona, Carbonara, Caterina, Campagnoli, Maria Francesca, Galletto, Paolo, Palumbo, Martina, Olivieri, Simone, Isella, Claudio, Andelfinger, Gregor, Tartaglia, Marco, Botta, Giovanni, Brusco, Alfredo, Medico, Enzo, Ferrero, Giovanni Battista
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774485/
https://www.ncbi.nlm.nih.gov/pubmed/35052347
http://dx.doi.org/10.3390/genes13010006

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