Thrombocytopenia and Predisposition to Acute Myeloid Leukemia due to Mosaic Ring 21 with Loss of RUNX1: Cytogenetic and Molecular Characterization
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Béri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, et al: Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet 16:1014-1018 (2008).
2. Buijs A, Poot M, van der Crabben S, van der Zwaag B, van Binsbergen E, et al: Elucidation of a novel pathogenomic mechanism using genome-wide long mate-pair sequencing of a congenital t(16;21) in a series of three RUNX1-mutated FPD/AML pedigrees. Leukemia 26:2151-2154 (2012).
3. Cavalcante de Andrade Silva M, Krepischi ACV, Kulikowski LD, Zanardo EA, Nardinelli L, et al: Deletion of RUNX1 exons 1 and 2 associated with familial platelet disorder with propensity to acute myeloid leukemia. Cancer Genet 222-223:32-37 (2018).
4. Click ES, Cox B, Olson SB, Grompe M, Akkari Y, et al: Fanconi anemia-like presentation in an infant with constitutional deletion of 21q including the RUNX1 gene. Am J Med Genet A 155A:1673-1679 (2011).
5. Godley LA: Inherited predisposition to acute myeloid leukemia. Semin Hematol 51:306-321 (2014).
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