title: Molecular basis of inherited thrombocytopenias.
abstract: Inherited thrombocytopenias (IT) are a heterogeneous group of diseases caused by at least 20 different genes. At present, these genes account for approximately 50% of cases, suggesting that novel genes have yet to be identified for a comprehensive understanding of platelet biogenesis defects. This review provides an update of ITs focusing on the molecular basis and potential pathogenic mechanisms affecting megakaryopoiesis and platelet production.
authors.affiliation: Department of Medical Sciences, University of Trieste, Trieste, Italy.|Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Savoia
mesh_terms: D001792:Blood Platelets / Q000378:metabolism; D004920:Erythropoiesis / Q000235:genetics; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D006801:Humans; D008533:Megakaryocytes / Q000378:metabolism; D015398:Signal Transduction / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics*
keywords: inherited thrombocytopenia; megakaryocytopoiesis; molecular basis; platelet biogenesis