Phenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
Accepted version
Peer-reviewed
Repository URI
Repository DOI
Type
Article
Change log
Authors
Downes, Kate
Burney, Claire
Lozano, Maria L
Obaji, Samya G
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.
Description
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
Conference Name
Journal ISSN
2473-9529
2473-9537
2473-9537
Volume Title
2
Publisher
American Society of Hematology