Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
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DOI: 10.3324/haematol.2022.280993
Abstract: Inherited thrombocytopenias (ITs) are genetic diseases characterized by low platelet count, possibly associated with congenital defects or predisposition to develop additional conditions. Next generation sequencing has consistently improved our knowledge of ITs, with >40 genes… read more here.
Keywords: 116 patients; phenotype; phenotype driven; driven diagnostic ... See more keywords