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

Authors
Downes, Kate 
Burney, Claire 
Lozano, Maria L 
Obaji, Samya G 
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DOI
https://doi.org/10.1182/bloodadvances.2018020370
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Supporting information (131.19 KB)
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Type
Article
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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.

Publication Date
2018-09-25
Online Publication Date
2018-09-19
Acceptance Date
2018-08-01
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
Journal Title
Blood Adv
Journal ISSN
2473-9529
2473-9537
Volume Title
2
Publisher
American Society of Hematology
Rights
http://www.rioxx.net/licenses/all-rights-reserved
Collections
Cambridge University Research Outputs