Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation

Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation

Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic card...

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Bibliographic Details
Main Authors: Michele Lioncino, Adelaide Fusco, Emanuele Monda, Diego Colonna, Michelina Sibilio, Martina Caiazza, Daniela Magri, Angela Carla Borrelli, Barbara D’Onofrio, Maria Luisa Mazzella, Rossella Colantuono, Maria Rosaria Arienzo, Berardo Sarubbi, Maria Giovanna Russo, Giovanni Chello, Giuseppe Limongelli
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Genes
Subjects:
Noonan syndrome
lymphangectasia
hypertrophic cardiomyopathy
RASopathies
MEK1
trametinib
Online Access:https://www.mdpi.com/2073-4425/13/9/1503

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https://www.mdpi.com/2073-4425/13/9/1503

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