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Platelets Volume 33, 2022 - Issue 4
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Definitive Report

Congenital thrombocytopenia associated with a heterozygous variant in the MEIS1 gene encoding a transcription factor essential for megakaryopoiesis

Orna Steinberg-Shemer1 Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel;2 Department of Hematology-Oncology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel;3 Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelCorrespondence[email protected]
View further author information
,
Naama Orenstein3 Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;4 Pediatric Genetic Clinic, Schneider Children’s Medical Center of Israel, Petach Tikva, IsraelView further author information
,
Tanya Krasnov1 Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, IsraelView further author information
,
Sharon Noy-Lotan1 Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, IsraelView further author information
,
Nathaly Marcoux1 Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, IsraelView further author information
,
Orly Dgany1 Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, IsraelView further author information
,
Joanne Yacobovich2 Department of Hematology-Oncology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel;3 Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelView further author information
,
Oded Gilad2 Department of Hematology-Oncology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel;3 Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelView further author information
,
Evelyn Shabad5 Blood Bank, Carmel Medical Center, Haifa, IsraelView further author information
,
Lina Basel-Salmon3 Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel;6 Recanati Genetics Institute, Rabin Medical Center, Petach Tikva, IsraelView further author information
&
Hannah Tamary1 Pediatric Hematology Laboratory, Felsenstein Medical Research Center, Sackler School of Medicine, Tel-Aviv University, Petach Tikva, Israel;2 Department of Hematology-Oncology, Schneider Children’s Medical Center of Israel, Petach Tikva, Israel;3 Sackler School of Medicine, Tel Aviv University, Tel Aviv, IsraelView further author information
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Pages 645-648 | Received 07 Jan 2021, Accepted 08 Jul 2021, Published online: 08 Feb 2022

References

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  • Zeddies S, Jansen SBG, Di Summa F, Geerts D, Zwaginga JJ, van der Schoot CE, Von Lindern M, Thijssen-Timmer DC. MEIS1 regulates early erythroid and megakaryocytic cell fate. Haematologica. 2014;99(10):1555–1564. DOI:10.3324/haematol.2014.106567.
  • Wang H, Liu C, Liu X, Wang M, Wu D, Gao J, Su P, Nakahata T, Zhou W, Xu Y, et al. MEIS1 regulates hemogenic endothelial generation, megakaryopoiesis, and thrombopoiesis in human pluripotent stem cells by targeting TAL1 and FLI1. Stem Cell Rep. 2018;10(2):447–460. DOI:10.1016/j.stemcr.2017.12.017.
  • Rehm HL, et al. ACMG clinical laboratory standards for next-generation sequencing. Genet Med. 2013;15(9):733–747. DOI:10.1038/gim.2013.92.
  • Steinberg-Shemer O, et al. Diamond Blackfan Anemia: a nonclassical patient with diagnosis assisted by genomic analysis. J Pediatr Hematol Oncol. 2016;38(7):e260–2. DOI:10.1097/MPH.0000000000000587.
  • Sarayloo F, Dion PA, Rouleau GA. MEIS1 and restless legs syndrome: a comprehensive review. Front Neurol. 2019;10:935. DOI:10.3389/fneur.2019.00935.

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