Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

doi:10.1016/j.ijcard.2017.07.068

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Article

Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

International journal of cardiology - 15 Oct 2017

Calcagni Giulio, Limongelli Giuseppe, D'Ambrosio Angelo, Gesualdo Francesco, Digilio M Cristina, Baban Anwar, Albanese Sonia B, Versacci Paolo, De Luca Enrica, Ferrero Giovanni B, Baldassarre Giuseppina, Agnoletti Gabriella, Banaudi Elena, Marek Jan, Kaski Juan P, Tuo Giulia, Russo M Giovanna, Pacileo Giuseppe, Milanesi Ornella, Messina Daniela, Marasini Maurizio, Cairello Francesca, Formigari Roberto, Brighenti Maurizio, Dallapiccola Bruno, Tartaglia Marco, Marino Bruno

Abstract excerpt

BACKGROUND: RASopathies are developmental disease caused by mutations in genes encoding for signal transducers of the RAS-MAPK cascade. The aim of the present study was to provide a comprehensive description of morbidity and mortality in patients with molecularly confirmed RASopathy. METHODS: A multicentric, observational, retrospective study was conducted in seven European cardiac centres participating to the...

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PMID: 28768581
DOI: 10.1016/j.ijcard.2017.07.068

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PTPN11

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