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Review
. 2016 Feb;89(2):154-62.
doi: 10.1111/cge.12607. Epub 2015 May 28.

Molecular basis of inherited thrombocytopenias

A Savoia  1   2
Affiliations
Free article
Review

Molecular basis of inherited thrombocytopenias

A Savoia. Clin Genet. 2016 Feb.
Free article

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.

Keywords: inherited thrombocytopenia; megakaryocytopoiesis; molecular basis; platelet biogenesis.

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