ETV6-related thrombocytopenia and platelet dysfunction
Sign Up to like & getrecommendations! 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… read more here.
Keywords: etv6 related; thrombocytopenia platelet; platelet dysfunction; etv6 mutations ... See more keywords
ETV6-Related Thrombocytopenia and Leukemia Predisposition.
Sign Up to like & getrecommendations! Published in 2019 at "Blood"
DOI: 10.1182/blood.2019852418
Abstract: Germline mutations in ETV6 are responsible for a familial thrombocytopenia and leukemia predisposition syndrome. Thrombocytopenia is almost completely penetrant and is usually mild. Leukemia is reported in approximately 30% of carriers and is most often… read more here.
Keywords: etv6 related; thrombocytopenia leukemia; leukemia; leukemia predisposition ... See more keywords