Article
Population Frequency of Fanconi Pathway Gene Variants and Their Association with Survival After Hematopoietic Cell Transplantation for Severe Aplastic Anemia.
Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation - 1 May 2020
McReynolds Lisa J, Wang Youjin, Thompson Ashley S, Ballew Bari J, Kim Jung, Alter Blanche P, Hicks Belynda, Zhu Bin, Jones Kristine, Spellman Stephen R, Wang Tao, Lee Stephanie J, Savage Sharon A, Gadalla Shahinaz M
Abstract excerpt
Severe aplastic anemia (SAA) is most frequently immune-mediated; however, rare inherited bone marrow failure syndromes, such as Fanconi anemia (FA), may be causal and can present as aplastic anemia (AA). FA is primarily an autosomal recessive disorder caused by the presence of 2 pathogenic variants in a single FA/BRCA DNA repair pathway gene. Patients with SAA often undergo genetic testing during clinical...
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