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

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Authors
  Westbury, Sarah K
Downes, Kate
Burney, Claire
Lozano, Maria L
Obaji, Samya G
Toh, Cheng Hock
Sevivas, Teresa
Publication Date
2018-09-25
Journal Title
Blood Adv
ISSN
2473-9529
Publisher
American Society of Hematology
Volume
2
Issue
18
Pages
2341-2346
Language
eng
Type
Article
Physical Medium
Print
Metadata
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Citation
Westbury, S. K., Downes, K., Burney, C., Lozano, M. L., Obaji, S. G., Toh, C. H., Sevivas, T., et al. (2018). Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.. Blood Adv, 2 (18), 2341-2346. https://doi.org/10.1182/bloodadvances.2018020370
Abstract
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.
Keywords
Adaptor Proteins, Signal Transducing, Adolescent, Adult, Aged, Biomarkers, Child, Child, Preschool, Female, Formins, Genetic Association Studies, Humans, Male, Middle Aged, Pedigree, Phenotype, Receptors, Thrombopoietin, Signal Transduction, Thrombocytopenia, Young Adult
Identifiers
External DOI: https://doi.org/10.1182/bloodadvances.2018020370
This record's URL: https://www.repository.cam.ac.uk/handle/1810/285825
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