Mild Beckwith-Wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p

We report on a young woman admitted to our Cardiology Unit because of an episode of cardiac arrest related to a long-QT syndrome (LQTS). This manifestation was part of a broader phenotype, which was recognized as a mild form of Beckwith-Wiedemann syndrome (BWS). Molecular analysis confirmed the diag...

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Detalhes bibliográficos
Main Authors: Gurrieri, Fiorella, Zollino, Marcella, Oliva, Antonio, Pascali, Vincenzo, Orteschi, Daniela, Pietrobono, Roberta, Camporeale, Antonella, Coll Vidal, Monica, Partemi, Sara, Brugada, Ramon, Bellocci, Fulvio, Neri, Giovanni
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3746256/
https://ncbi.nlm.nih.gov/pubmed/23511928
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.280
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