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

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dc.contributor.authorWestbury, Sarah K
dc.contributor.authorDownes, Kate
dc.contributor.authorBurney, Claire
dc.contributor.authorLozano, Maria L
dc.contributor.authorObaji, Samya G
dc.contributor.authorToh, Cheng Hock
dc.contributor.authorSevivas, Teresa
dc.contributor.authorMorgan, Neil V
dc.contributor.authorErber, Wendy N
dc.contributor.authorKempster, Carly
dc.contributor.authorMoore, Samantha F
dc.contributor.authorThys, Chantal
dc.contributor.authorPapadia, Sofia
dc.contributor.authorOuwehand, Willem
dc.contributor.authorNIHR BioResource–Rare Diseases
dc.contributor.authorLaffan, Michael A
dc.contributor.authorGomez, Keith
dc.contributor.authorFreson, Kathleen
dc.contributor.authorRivera, Jose
dc.contributor.authorMumford, Andrew D
dc.date.accessioned2018-11-23T00:32:36Z
dc.date.available2018-11-23T00:32:36Z
dc.date.issued2018-09-25
dc.identifier.issn2473-9529
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/285825
dc.description.abstract<jats:title>Key Points</jats:title> <jats:p>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.</jats:p>
dc.format.mediumPrint
dc.languageeng
dc.publisherAmerican Society of Hematology
dc.subjectNIHR BioResource–Rare Diseases
dc.subjectHumans
dc.subjectThrombocytopenia
dc.subjectAdaptor Proteins, Signal Transducing
dc.subjectPedigree
dc.subjectSignal Transduction
dc.subjectPhenotype
dc.subjectAdolescent
dc.subjectAdult
dc.subjectAged
dc.subjectMiddle Aged
dc.subjectChild
dc.subjectChild, Preschool
dc.subjectFemale
dc.subjectMale
dc.subjectReceptors, Thrombopoietin
dc.subjectYoung Adult
dc.subjectGenetic Association Studies
dc.subjectBiomarkers
dc.subjectFormins
dc.titlePhenotype description and response to thrombopoietin receptor agonist in DIAPH1-related disorder.
dc.typeArticle
prism.endingPage2346
prism.issueIdentifier18
prism.publicationDate2018
prism.publicationNameBlood Adv
prism.startingPage2341
prism.volume2
dc.identifier.doi10.17863/CAM.33169
dcterms.dateAccepted2018-08-01
rioxxterms.versionofrecord10.1182/bloodadvances.2018020370
rioxxterms.licenseref.urihttp://www.rioxx.net/licenses/all-rights-reserved
rioxxterms.licenseref.startdate2018-09
dc.contributor.orcidWestbury, Sarah K [0000-0002-0950-8148]
dc.contributor.orcidDownes, Kate [0000-0003-0366-1579]
dc.contributor.orcidPapadia, Sofia [0000-0002-9222-3812]
dc.contributor.orcidOuwehand, Willem [0000-0002-7744-1790]
dc.contributor.orcidGomez, Keith [0000-0002-8934-0700]
dc.identifier.eissn2473-9537
rioxxterms.typeJournal Article/Review
cam.issuedOnline2018-09-19
rioxxterms.freetoread.startdate2019-09-30


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