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

Sarah K. Westbury; Kate Downes; Claire Burney; Marı́a Luisa Lozano; Samya Obaji; Cheng‐Hock Toh; Teresa Sevivas; Neil V. Morgan; Wendy N. Erber; Carly Kempster; Samantha Moore; Chantal Thys; Sofia Papadia; Willem H. Ouwehand; Michael Laffan; Keith Gomez; Kathleen Freson; José Rivera; Andrew Mumford

doi:10.1182/bloodadvances.2018020370

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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.

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Westbury et al. (2018) studied this question.

synapsesocial.com/papers/6aab4031c92f7a20c4f58b12 https://doi.org/10.1182/bloodadvances.2018020370

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

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Abstract

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

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Abstract

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