ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor
Author:
Funder
Japan Agency for Medical Research and Development
Publisher
Springer Science and Business Media LLC
Subject
Hematology
Link
https://link.springer.com/content/pdf/10.1007/s12185-021-03136-4.pdf
Reference12 articles.
1. Poggi M, Canault M, Favier M, Turro E, Saultier P, Ghalloussi D, et al. Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulation CD34+ progenitors. Haematologica. 2017;102:282–94.
2. Noetzli L, Lo RW, Lee-Sherick AB, Callaghan M, Noris P, Savioa A, et al. Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia. Nat Genet. 2015;47:535–8.
3. Moriyama T, Metzger ML, Wu G, Nishii R, Qian M, Devidas M, et al. Germline genetic variation in ETV6 and risk of childhood acute lymphoblastic leukemia: a systematic genetic study. Lancet Oncol. 2015;16:1659–66.
4. Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101:1333–42.
5. Di Paola J, Porter CC. ETV6-related thrombocytopenia and leukemia predisposition. Blood. 2019;134:663–7.
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