Published in
American Society of Hematology, Blood Advances, 18(2), p. 2341-2346, 2018
DOI: 10.1182/bloodadvances.2018020370
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Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder
Journal article published in 2018 by
Sarah K. Westbury,
Kate Downes,
Claire Burney,
Cheng Hock Toh,
Maria L. Lozano,
Samya G. Obaji,
Teresa Sevivas,
Chantal Thys,
Neil V. Morgan,
Wendy N. Erber,
Carly Kempster,
Samantha F. Moore,
Sofia Papadia,
Willem H. Ouwehand,
Michael A. Laffan 
and other authors.
and other authors.
This paper is made freely available by the publisher.
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Abstract
Key Points DIAPH1-related disorder has a bilineage hematological phenotype of macrothrombocytopenia and neutropenia associated with hearing loss. Eltrombopag increased proplatelet formation from cultured DIAPH1-related disorder megakaryocytes and improved platelet counts in vivo.