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Hematol Oncol Clin North Am. 2009 Apr;23(2):193-214. doi: 10.1016/j.hoc.2009.01.008.

Fanconi anemia.

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Section of Pediatric Hematology-Oncology, Department of Pathology, Yale University School of Medicine, 333 Cedar Street LMP 2073, PO Box 208064, New Haven, CT 06520-8064, USA.


Fanconi anemia (FA) is an autosomal and X-linked recessive disorder characterized by bone marrow failure, acute myelogenous leukemia, solid tumors, and developmental abnormalities. Recent years have seen a dramatic improvement in FA patient treatment, resulting in a greater survival of children into adulthood. These improvements have been made despite the fact that a definitive cellular function for the proteins in the FA pathway has yet to be elucidated. Delineating the cellular functions of the FA pathway could help further improve the treatment options for FA patients and further reduce the probability of succumbing to the disease. This article reviews the current clinical aspects of FA including presentation, diagnosis, and treatment followed by a review of the molecular aspects of FA as they are currently understood.

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