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

Genes - 23 Aug 2022

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

Abstract excerpt

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 cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36140671
DOI: 10.3390/genes13091503
PMCID: PMC9498305

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