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Editorial
. 2023 May 1;108(5):1216-1219.
doi: 10.3324/haematol.2022.282024.

The name counts: the case of 'congenital amegakaryocytic thrombocytopenia'

Carlo L Balduini  1
Affiliations
Editorial

The name counts: the case of 'congenital amegakaryocytic thrombocytopenia'

Carlo L Balduini. Haematologica. .
No abstract available

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Figures

Figure 1.
Figure 1.
The spectrum of inherited thrombocytopenias with defective bone marrow megakaryocytes. Mutations of five different genes cause congenital amegakaryocytic thrombocytopenia in the context of clinical phenotypes peculiar to each etiopathogenetic mechanism. The only three names in use today for these diseases are therefore unable to properly describe the five diseases, and new names have been proposed that include the defective gene to emphasize that etiological differences result in clinically relevant differences.
See this image and copyright information in PMC

Comment on

References

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Supplementary concepts