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...
Autori principali: | 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 |
---|---|
Natura: | Articolo |
Lingua: | English |
Pubblicazione: |
Frontiers Media S.A.
2023-08-01
|
Serie: | Frontiers in Pediatrics |
Soggetti: | |
Accesso online: | https://www.frontiersin.org/articles/10.3389/fped.2023.1182476/full |
Documenti analoghi
Documenti analoghi
-
Dyskeratosis Congenita and Short Telomeres in a Female Patient
di: Virgínia Vinha Zanuncio, et al.
Pubblicazione: (2020-12-01) -
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita
di: Hemanth Tummala, et al.
Pubblicazione: (2024-08-01) -
Severe immunochemotherapy-induced toxicities in a patient with dyskeratosis congenita and literature review
di: Jiayi Geng, et al.
Pubblicazione: (2022-12-01) -
Case report: A novel mutation in RTEL1 gene in dyskeratosis congenita
di: Haider Nisar, et al.
Pubblicazione: (2023-03-01) -
Punctal and Canalicular Obstruction Associated with Dyskeratosis Congenita
di: Taner Kar, et al.
Pubblicazione: (2015-01-01)