Mutación c.3037G>A en el gen FBN1 causa sindrome de Marfan con fenotipo atípico severo

Translated title of the contribution: A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype

Michele Callea, Colin Eric Willoughby, Francisco Camarata-Scalisi, Isabella Giovannoni, Agatino Vinciguerra, Izzet Yavuz, Mariateresa Di Stazio, Enzo Di Iorio, Gabriella Clarich, Alessandra Benettoni, Angela Galeotti, Emanuele Bellacchio

Research output: Contribution to journalArticle

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Medicine & Life Sciences