Advances in the understanding of congenital amegakaryocytic thrombocytopenia.

@article{Ballmaier2009AdvancesIT,
  title={Advances in the understanding of congenital amegakaryocytic thrombocytopenia.},
  author={Matthias Ballmaier and Manuela Germeshausen},
  journal={British journal of haematology},
  year={2009},
  volume={146 1},
  pages={3-16}
}
Congenital amegakaryocytic thrombocytopenia (MIM #604498) is an extremely rare inherited bone marrow failure syndrome, usually presenting as a severe thrombocytopenia at birth due to ineffective megakaryocytopoiesis and no characteristic physical anomalies. Usually the isolated thrombocytopenia progresses to pancytopenia during the first years of life. The only curative therapy to date is haematopoietic stem cell transplantation. Most of the cases of congenital amegakaryocytic thrombocytopenia… CONTINUE READING
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