Macrothrombocytopenia
Definition:
References:
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[1]. Alan T Nurden, et al. Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. Semin Thromb Hemost. 2011 Sep;37(6):698-706. [Content Brief]
[2]. Carolina Landolt-Marticorena, et al. Inherited macrothrombocytopenias on the rise. Blood. 2014 Oct 16;124(16):2473-5. [Content Brief]
[3]. Kathleen Freson, et al. Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation. Hum Mol Genet. 2002 Jan 15;11(2):147-52. [Content Brief]
[4]. Quentin Kimmerlin, et al. Mutations in the most divergent α-tubulin isotype, α8-tubulin, cause defective platelet biogenesis. J Thromb Haemost. 2022 Feb;20(2):461-469. [Content Brief]
[5]. Remi Favier, et al. Progress in understanding the diagnosis and molecular genetics of macrothrombocytopenias. Br J Haematol. 2015 Sep;170(5):626-39. [Content Brief]
[6]. Shannon C Jackson, et al. The Montreal platelet syndrome kindred has type 2B von Willebrand disease with the VWF V1316M mutation. Blood. 2009 Apr 2;113(14):3348-51. [Content Brief]
[7]. Shinji Kunishima, et al. ACTN1 mutations cause congenital macrothrombocytopenia. Am J Hum Genet. 2013 Mar 7;92(3):431-8. [Content Brief]
[8]. Shinji Kunishima, et al. Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly. Blood. 2009 Jan 8;113(2):458-61. [Content Brief]
[9]. Simon Stritt, et al. A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss. Blood. 2016 Jun 9;127(23):2903-14. [Content Brief]
[10]. Zhaoyue Wang, et al. Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia. Am J Hematol. 2014 Mar;89(3):320-4. [Content Brief]
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