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Article

Heritable GATA2 mutations associated with familial AML-MDS: a case report and review of literature

22 Apr 2014

Abstract excerpt

A 50-year-old woman was diagnosed with acute myeloid leukemia (AML). She has history of thrombocytopenia for 25 years and a significant family history of thrombocytopenia, affecting her mother, siblings and their children, as well as her own children. Both her mother and maternal aunt died from myelodysplastic syndrome (MDS). Additional genetic analysis was performed and identified two heterozygous missence...

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PMID: 24754962
DOI: 10.1186/1756-8722-7-36

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