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Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder

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Bibliographische Detailangaben
Zeitschriftentitel: Blood Advances
Personen und Körperschaften: Westbury, Sarah K., Downes, Kate, Burney, Claire, Lozano, Maria L., Obaji, Samya G., Toh, Cheng Hock, Sevivas, Teresa, Morgan, Neil V., Erber, Wendy N., Kempster, Carly, Moore, Samantha F., Thys, Chantal, Papadia, Sofia, Ouwehand, Willem H., Laffan, Michael A., Gomez, Keith, Freson, Kathleen, Rivera, Jose, Mumford, Andrew D.
In: Blood Advances, 2, 2018, 18, S. 2341-2346
Format: E-Article
Sprache: Englisch
veröffentlicht:
American Society of Hematology
Schlagwörter:
Hematology
Details
Zusammenfassung: <jats:title>Key Points</jats:title> <jats:p>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.</jats:p>
Umfang: 2341-2346
ISSN: 2473-9529
2473-9537
DOI: 10.1182/bloodadvances.2018020370