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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Detalles Bibliográficos
Autores principales: Lioncino, Michele, Fusco, Adelaide, Monda, Emanuele, Colonna, Diego, Sibilio, Michelina, Caiazza, Martina, Magri, Daniela, Borrelli, Angela Carla, D’Onofrio, Barbara, Mazzella, Maria Luisa, Colantuono, Rossella, Arienzo, Maria Rosaria, Sarubbi, Berardo, Russo, Maria Giovanna, Chello, Giovanni, Limongelli, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498305/
https://www.ncbi.nlm.nih.gov/pubmed/36140671
http://dx.doi.org/10.3390/genes13091503

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498305/
https://www.ncbi.nlm.nih.gov/pubmed/36140671
http://dx.doi.org/10.3390/genes13091503

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