MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyop...
MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease
About this item
Full title
Author / Creator
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 and Ferrero, Giovanni Battista
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
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 with NS and HCM, treated with Trametinib and docume...
Alternative Titles
Full title
MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8774485
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8774485
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes13010006
