Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21
Author:
Publisher
Springer Science and Business Media LLC
Subject
Oncology,Cancer Research,Hematology
Link
https://www.nature.com/articles/s41375-022-01638-6.pdf
Reference15 articles.
1. Magalhães IQ, Splendore A, Emerenciano M, Córdoba MS, Córdoba JC, Allemand PA, et al. Transient neonatal myeloproliferative disorder without Down syndrome and detection of GATA1 mutation. J Pediatr Hematol Oncol. 2005;27:50–52. https://doi.org/10.1097/01.mph.0000151801.26478.03.
2. Yuzawa K, Terui K, Toki T, Kanezaki R, Kobayashi A, Sato T, et al. Clinical, cytogenetic, and molecular analyses of 17 neonates with transient abnormal myelopoiesis and nonconstitutional trisomy 21. Pediatr Blood Cancer. 2020;67:e28188 https://doi.org/10.1002/pbc.28188.
3. Rainis L, Bercovich D, Strehl S, Teigler-Schlegel A, Stark B, Trka J, et al. Mutations in exon 2 of GATA1 are early events in megakaryocytic malignancies associated with trisomy 21. Blood. 2003;102:981–6. https://doi.org/10.1182/blood-2002-11-3599.
4. Crispino JD, Horwitz MS. GATA factor mutations in hematologic disease. Blood. 2017;129:2103–10. https://doi.org/10.1182/blood-2016-09-687889.
5. Nichols KE, Crispino JD, Poncz M, White JG, Orkin SH, Maris JM, et al. Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1. Nat Genet. 2000;24:266–70. https://doi.org/10.1038/73480.
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