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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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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Materias: | |
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 |