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Published in 2020 at "Platelets"
DOI: 10.1080/09537104.2020.1760229
Abstract: Abstract We and others recently described families with germline heterozygote mutations in ETV6 leading to autosomal dominant highly penetrant thrombocytopenia, red cell macrocytosis and predisposition to leukemia.The bone marrow of affected individuals shows erythroid dysplasia…
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Keywords:
etv6 related;
thrombocytopenia platelet;
platelet dysfunction;
etv6 mutations ... See more keywords