Germline variants in ETV6 underlie reduced platelet formation, platelet dysfunction and increased levels of circulating CD34+ progenitors
Variants in ETV6, which encodes a transcription repressor of the E26 transformation-specific family, have recently been reported to be responsible for inherited thrombocytopenia south park fitted hat and hematologic malignancy.We sequenced the DNA from cases with unexplained dominant thrombocytopenia and identified six likely pathogenic variants in