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 |
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Pages (from-to) | 154-162 |
Number of pages | 9 |
Journal | Clinical Genetics |
Volume | 89 |
Issue number | 2 |
DOIs | |
Publication status | Published - Feb 1 2016 |
Keywords
- Inherited thrombocytopenia
- Megakaryocytopoiesis
- Molecular basis
- Platelet biogenesis
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics