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Pseudoxanthoma Elasticum: Cardiac Findings in Patients and Abcc6-Deficient Mouse Model

BACKGROUND: Pseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue. Cardiac complications reportedly associated with PXE are mainly based on case reports. METHODS...

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Detalhes bibliográficos
Main Authors: Prunier, Fabrice, Terrien, Gwenola, Le Corre, Yannick, Apana, Ailea L. Y., Bière, Loïc, Kauffenstein, Gilles, Furber, Alain, Bergen, Arthur A. B., Gorgels, Theo G. M. F., Le Saux, Olivier, Leftheriotis, Georges, Martin, Ludovic
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3720798/
https://ncbi.nlm.nih.gov/pubmed/23935882
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0068700
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