Article

Tracking Cytopenias in <i>FANCA</i> -deficient Fanconi Anemia

2025-12-18

Abstract excerpt

Fanconi anemia (FA) is an inherited disorder classically characterized by childhood-onset bone marrow dysfunction and lifelong cancer predisposition. FA is caused by pathogenic variants in any one of 23 genes identified so far. Of these, FANCA is the most frequently mutated and accounts for disease in two-thirds of all patients with FA. The spectrum of FANCA pathogenic variants (mutations) is broad, and genotype...

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Literature Corpus work: e76f645c-c899-56d9-aded-37b51d71bfde
DOI: 10.64898/2025.12.14.25341731

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