Molecular basis of inherited thrombocytopenias

A. Savoia

doi:10.1111/cge.12607

Molecular basis of inherited thrombocytopenias

A. Savoia

IRCCS pediatrico Burlo Garofolo

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	154-162
Number of pages	9
Journal	Clinical Genetics
Volume	89
Issue number	2
DOIs	https://doi.org/10.1111/cge.12607
Publication status	Published - Feb 1 2016

Keywords

Inherited thrombocytopenia
Megakaryocytopoiesis
Molecular basis
Platelet biogenesis

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1111/cge.12607

Cite this

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AB - 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.

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KW - Platelet biogenesis

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Molecular basis of inherited thrombocytopenias

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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