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Genetics and clinical phenotype of Erdheim–Chester disease: A case report of constrictive pericarditis and a systematic review of the literature

BACKGROUND: Erdheim–Chester disease (ECD) is a rare form of histiocytosis. An increasing number of genetic mutations have been associated with this syndrome, confirming its possible neoplastic origin. Recently, a connection between the BRAF mutational status and a specific phenotype was described; h...

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Detalles Bibliográficos
Autores principales: Bartoli, Lorenzo, Angeli, Francesco, Stefanizzi, Andrea, Fabrizio, Michele, Paolisso, Pasquale, Bergamaschi, Luca, Broccoli, Alessandro, Zinzani, Pier Luigi, Galiè, Nazzareno, Rucci, Paola, Foà, Alberto, Pizzi, Carmine
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9403274/
https://www.ncbi.nlm.nih.gov/pubmed/36035941
http://dx.doi.org/10.3389/fcvm.2022.876294