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

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

BackgroundDyskeratosis 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 childh...

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Váldodahkkit: M. L. Uria-Oficialdegui, S. Navarro, L. Murillo-Sanjuan, C. Rodriguez-Vigil, M. I. Benitez-Carbante, C. Blazquez-Goñi, J. A. Salinas, C. Diaz-de-Heredia
Materiálatiipa: Artihkal
Giella:English
Almmustuhtton: Frontiers Media S.A. 2023-08-01
Ráidu:Frontiers in Pediatrics
Fáttát:
dyskeratosis congenita
telomeres
inherent bone marrow failure
multisystem disease
aplastic anaemia
hematopoeietic stem cell transplantation
Liŋkkat:https://www.frontiersin.org/articles/10.3389/fped.2023.1182476/full

Interneahtta

https://www.frontiersin.org/articles/10.3389/fped.2023.1182476/full

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