delta-storage pool defect, congenital thrombocytopenia / thrombocytopathy syndrome

Novel phenotypes observed in patients with ETV6-linked leukaemia/familial thrombocytopenia syndrome and a biallelic ARID5B risk allele as leukaemogenic cofactor
Anna Karastaneva, Karin Nebral, Axel Schlagenhauf, Marcel Baschin, Raghavendra Palankar, Herbert Juch, Ellen Heitzer, Michael R Speicher, Gerald Höfler, Irina Grigorow, Christian Urban, Martin Benesch, Andreas Greinacher, Oskar A Haas, Markus G Seidel

Journal of Medical Genetics Jun 2020, 57 (6) 427-433; DOI: 10.1136/jmedgenet-2019-106339

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delta-storage pool defect, congenital thrombocytopenia / thrombocytopathy syndrome