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

17 Feb 2020

Abstract excerpt

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 compensatory mutations in hematopoietic cells and may be associated with BMF reversal and decreased blood cell sensitivity...

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PMID: 32065290
DOI: 10.1007/s00277-020-03954-2

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