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

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

Accepted version

Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/285825

Repository DOI

https://doi.org/10.17863/CAM.33169

Files

Accepted version (221.86 KB)

Supporting information (131.19 KB)

Supporting information (191.94 KB)

Type

Authors

Westbury, Sarah K

https://orcid.org/0000-0002-0950-8148

Lozano, Maria L

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

Journal Title

Blood Adv

Journal ISSN

2473-9529
2473-9537

Volume Title

2

Publisher

American Society of Hematology

Publisher DOI

https://doi.org/10.1182/bloodadvances.2018020370

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University of Cambridge Research Outputs (Articles and Conferences)