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Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency

dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorRomero-Moya, Damia
dc.contributor.authorPera, Joan
dc.contributor.authorMarin-Bejar, Oskar
dc.contributor.authorTorralba Sales, Eric
dc.contributor.authorMurillo-Sanjuán, Laura
dc.contributor.authorDiaz de Heredia, Cristina
dc.contributor.authorMONTORO, JULIA
dc.date.accessioned2025-04-17T07:15:49Z
dc.date.available2025-04-17T07:15:49Z
dc.date.issued2025-04
dc.identifier.citationRomero-Moya D, Pera J, Marin-Bejar O, Torralba-Sales E, Murillo-Sanjuán L, Diaz-de-Heredia C, et al. Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency. Leukemia. 2025 Apr;39:962-6.
dc.identifier.issn1476-5551
dc.identifier.urihttp://hdl.handle.net/11351/12966
dc.descriptionFenotipo; Perfil epigenético; Deficiencia de GATA2
dc.language.isoeng
dc.publisherSpringer Nature
dc.relation.ispartofseriesLeukemia;39
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.sourceScientia
dc.subjectSang - Malalties - Aspectes genètics
dc.subjectMalalties congènites
dc.subjectFenotip
dc.subjectGenotip
dc.subjectAnomalies cromosòmiques
dc.subjectMalalties immunològiques - Aspectes genètics
dc.subject.meshGATA2 Deficiency
dc.subject.mesh/genetics
dc.subject.meshPhenotype
dc.subject.meshMutation
dc.subject.meshHematologic Diseases
dc.subject.meshGenotype
dc.subject.meshGenetic Predisposition to Disease
dc.titleMultiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1038/s41375-025-02519-4
dc.subject.decsdeficiencia de GATA2
dc.subject.decs/genética
dc.subject.decsfenotipo
dc.subject.decsmutación
dc.subject.decsenfermedades hematológicas
dc.subject.decsgenotipo
dc.subject.decspredisposición genética a la enfermedad
dc.relation.publishversionhttps://doi.org/10.1038/s41375-025-02519-4
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut Català de la Salut
dc.contributor.authoraffiliation[Romero-Moya D, Torralba-Sales E] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. [Pera J] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Department of Hematology and Oncology, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Deu, Barcelona, Spain. [Marin-Bejar O] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Germans Trias i Pujol Health Science Research Institute (IGTP), Cancer Program, Badalona, Spain. [Murillo-Sanjuán L, Diaz-de-Heredia C] Servei d’Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Montoro J] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain
dc.identifier.pmid39890964
dc.identifier.wos001412222800001
dc.relation.projectidinfo:eu-repo/grantAgreement/EC/H2020/101029927
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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