Genotype-phenotype and outcome associations in patients with Fanconi anemia: the National Cancer Institute cohort

Fanconi anemia (FA) is caused by pathogenic variants in the FA/BRCA DNA repair pathway genes, and is characterized by congenital abnormalities, bone marrow failure and an increased risk of cancer. We conducted a genotype-phenotype and outcomes study of 203 patients with FA in our cohort. We compared...

Descripción completa

Detalles Bibliográficos
Autores principales: Altintas, Burak, Giri, Neelam, McReynolds, Lisa J., Best, Ana, Alter, Blanche P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2022
Materias:
Article - Bone Marrow Failure
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9827153/
https://www.ncbi.nlm.nih.gov/pubmed/35417938
http://dx.doi.org/10.3324/haematol.2021.279981

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9827153/
https://www.ncbi.nlm.nih.gov/pubmed/35417938
http://dx.doi.org/10.3324/haematol.2021.279981

Ejemplares similares