Article
Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy.
Blood - 1 Dec 2008
Owen Carolyn J, Toze Cynthia L, Koochin Anna, Forrest Donna L, Smith Clayton A, Stevens Jane M, Jackson Shannon C, Poon Man-Chiu, Sinclair Gary D, Leber Brian, Johnson Peter R E, Macheta Anthony, Yin John A L, Barnett Michael J, Lister T Andrew, Fitzgibbon Jude
Abstract excerpt
Familial platelet disorder with propensity to myeloid malignancy (FPD/AML) is an autosomal dominant syndrome characterized by platelet abnormalities and a predisposition to myelodysplasia (MDS) and/or acute myeloid leukemia (AML). The disorder, caused by inherited mutations in RUNX1, is uncommon with only 14 pedigrees reported. We screened 10 families with a history of more than one first degree relative with...
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