Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization

Fanconi anemia (FA) is a DNA repair disorder resulting from mutations in genes encoding for FA DNA repair complex components and is characterized by variable congenital abnormalities, bone marrow failure (BMF), and high incidences of malignancies. FA mosaicism arises from reversion or other compensa...

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Detalles Bibliográficos
Autores principales: Nicoletti, Eileen, Rao, Gayatri, Bueren, Juan A., Río, Paula, Navarro, Susana, Surrallés, Jordi, Choi, Grace, Schwartz, Jonathan D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7196946/
https://www.ncbi.nlm.nih.gov/pubmed/32065290
http://dx.doi.org/10.1007/s00277-020-03954-2

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