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 | |
| Publication status | Published - Feb 1 2016 |
Keywords
- Inherited thrombocytopenia
- Megakaryocytopoiesis
- Molecular basis
- Platelet biogenesis
ASJC Scopus subject areas
- Genetics(clinical)
- Genetics
Fingerprint Dive into the research topics of 'Molecular basis of inherited thrombocytopenias'. Together they form a unique fingerprint.
Cite this
Savoia, A. (2016). Molecular basis of inherited thrombocytopenias. Clinical Genetics, 89(2), 154-162. https://doi.org/10.1111/cge.12607