Dyskeratosis congenita: natural history of the disease through the study of a cohort of patients diagnosed in childhood

BACKGROUND: Dyskeratosis congenita (DC) is a multisystem and ultra-rare hereditary disease characterized by somatic involvement, bone marrow failure, and predisposition to cancer. The main objective of this study is to describe the natural history of DC through a cohort of patients diagnosed in chil...

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Detalles Bibliográficos
Autores principales: Uria-Oficialdegui, M. L., Navarro, S., Murillo-Sanjuan, L., Rodriguez-Vigil, C., Benitez-Carbante, M. I., Blazquez-Goñi, C., Salinas, J. A., Diaz-de-Heredia, C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10427857/
https://www.ncbi.nlm.nih.gov/pubmed/37593443
http://dx.doi.org/10.3389/fped.2023.1182476

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