Cargando…
IDH1 as a Cooperating Mutation in AML Arising in the Context of Shwachman-Diamond Syndrome
Shwachman-Diamond syndrome (SDS) is a rare and systemic disease mostly caused by mutations in the SBDS gene and characterized by pancreatic insufficiency, skeletal abnormalities, and a bone marrow dysfunction. In addition, SDS patients are predisposed to develop myelodysplastic syndromes (MDS) and a...
Autores principales: | Mourad, Stéphanie, Bilodeau, Mélanie, Roussy, Mathieu, Laramée, Louise, Boulianne, Luc, Rouette, Alexandre, Jouan, Loubna, Gendron, Patrick, Duval, Michel, Teira, Pierre, Hébert, Josée, Bittencourt, Henrique, Pastore, Yves, Landry, Josette-Renée, Cellot, Sonia |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6702516/ https://www.ncbi.nlm.nih.gov/pubmed/31475115 http://dx.doi.org/10.3389/fonc.2019.00772 |
Ejemplares similares
-
A case of Shwachman–Diamond syndrome
por: Kim, Ji Hoon, et al.
Publicado: (2013) -
Somatic development in children with Shwachman-Diamond syndrome
por: Bogusz-Wójcik, Agnieszka, et al.
Publicado: (2020) -
Shwachman-diamond syndrome: A case report
por: Tan, Huihan, et al.
Publicado: (2021) -
Hematologic complications with age in Shwachman-Diamond syndrome
por: Furutani, Elissa, et al.
Publicado: (2022) -
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome
por: Warren, Alan J.
Publicado: (2018)