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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...
Autores principales: | 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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3720798/ https://www.ncbi.nlm.nih.gov/pubmed/23935882 http://dx.doi.org/10.1371/journal.pone.0068700 |
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