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MYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopenia

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dc.contributor.authorRungrote Natesirinilkulen_US
dc.contributor.authorDarintr Sosothikulen_US
dc.contributor.authorPatcharee Komwilaisaken_US
dc.contributor.authorBunchoo Pongtanakulen_US
dc.contributor.authorNattee Narkbunnumen_US
dc.contributor.authorNajwa Yudhasompopen_US
dc.contributor.authorPimsiri Mekjarusgoolen_US
dc.contributor.authorPimjai Niparucken_US
dc.contributor.authorKochawan Boonyawaten_US
dc.contributor.authorShinji Kunishimaen_US
dc.contributor.authorNongnuch Sirachainanen_US
dc.contributor.authorSomjai Kanjanapongkulen_US
dc.contributor.authorThirachit Chotsampancharoenen_US
dc.contributor.authorChanchai Trivareeen_US
dc.contributor.authorSiranee Wongruangsrien_US
dc.contributor.authorPacharapan Surapolchaien_US
dc.contributor.authorSumonmaln Klamchuenen_US
dc.contributor.authorSaranya Busakornruangraten_US
dc.contributor.authorKittima Kanchanakamhaengen_US
dc.contributor.authorNattaporntira Phalakornkulen_US
dc.contributor.otherSiriraj Hospitalen_US
dc.contributor.otherGifu University of Medical Scienceen_US
dc.contributor.otherLampang Hospitalen_US
dc.contributor.otherChulalongkorn Universityen_US
dc.contributor.otherHatyai Hospitalen_US
dc.contributor.otherBhumibol Adulyadej Hospitalen_US
dc.contributor.otherKhon Kaen Universityen_US
dc.contributor.otherFaculty of Medicine Ramathibodi Hospital, Mahidol Universityen_US
dc.contributor.otherMaharaj Nakhon Ratchasima Hospitalen_US
dc.contributor.otherThammasat Universityen_US
dc.contributor.otherQueen Sirikit National Institute of Child Healthen_US
dc.contributor.otherPhramongkutklao College of Medicineen_US
dc.contributor.otherPrince of Songkla Universityen_US
dc.contributor.otherSawanpracharak Hospitalen_US
dc.contributor.otherChiang Mai Universityen_US
dc.contributor.otherSunpasitthiprasong Hospitalen_US
dc.contributor.otherSomdej Prapinklao Hospitalen_US
dc.date.accessioned2022-08-04T09:18:46Z
dc.date.available2022-08-04T09:18:46Z
dc.date.issued2021-07-01en_US
dc.description.abstractThe diagnosis of MYH9 disorder is guided by recognizing granulocyte Döhle body-like inclusion bodies and large/giant platelets in the peripheral blood smear. Immunofluorescence study of nonmuscle myosin heavy chain IIA is a sensitive screening method for diagnosis of MYH9 disorder. The diagnosis can then be confirmed by genetic analysis. A total of 67 patients with macrothrombocytopenia were included, of which 11 patients (16%), aged 4 months to 22 years, were ultimately diagnosed with MYH9 disorder. One novel mutation in exon 30 at c.4338T>C (p.F1446A) was detected. This mutation was associated with nonhematologic manifestations presenting in late adolescence with cataracts, hearing loss, and hematuria.en_US
dc.identifier.citationPediatric Blood and Cancer. Vol.68, No.7 (2021)en_US
dc.identifier.doi10.1002/pbc.29055en_US
dc.identifier.issn15455017en_US
dc.identifier.issn15455009en_US
dc.identifier.other2-s2.0-85115057948en_US
dc.identifier.urihttps://repository.li.mahidol.ac.th/handle/123456789/78048
dc.rightsMahidol Universityen_US
dc.rights.holderSCOPUSen_US
dc.source.urihttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85115057948&origin=inwarden_US
dc.subjectMedicineen_US
dc.titleMYH9 disorder: Identification and a novel mutation in patients with macrothrombocytopeniaen_US
dc.typeArticleen_US
dspace.entity.typePublication
mu.datasource.scopushttps://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85115057948&origin=inwarden_US

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