Molecular basis of inherited thrombocytopenias

Research output: Contribution to journalArticlepeer-review


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 languageEnglish
Pages (from-to)154-162
Number of pages9
JournalClinical Genetics
Issue number2
Publication statusPublished - Feb 1 2016


  • Inherited thrombocytopenia
  • Megakaryocytopoiesis
  • Molecular basis
  • Platelet biogenesis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics


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