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First description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.

dc.contributor.authorBandini, Perla
dc.contributor.authorBorràs, Nina
dc.contributor.authorFernández Mellid, Eugenia 
dc.contributor.authorMartin-Fernandez, Laura
dc.contributor.authorMelero Valentín, Paula
dc.contributor.authorComes, Natalia
dc.contributor.authorRamírez, Lorena
dc.contributor.authorCadahia Fernández, Patricia
dc.contributor.authorRodríguez Ruiz, Matilde 
dc.contributor.authorPérez Encinas, Manuel Mateo 
dc.contributor.authorVidal, Francisco
dc.contributor.authorCorrales, Irene
dc.date.accessioned2025-12-15T12:22:49Z
dc.date.available2025-12-15T12:22:49Z
dc.date.issued2023-11
dc.identifier.otherhttps://pubmed.ncbi.nlm.nih.gov/37696499/es
dc.identifier.urihttp://hdl.handle.net/20.500.11940/22265
dc.description.abstractInherited bone marrow failure syndromes (BMFS) are a heterogeneous group of disorders characterized by trilineage peripheral blood cytopenias, often presenting during infancy. Currently, more than 100 genes, including ERCC6L2, have been associated with BMFS. In conclusion, we report the first description of BM aplasia caused by ERCC6L2 variants in Spain and the fifth family with BMFS-2 caused by compound heterozygous variants in ERCC6L2es
dc.language.isoenges
dc.subject.meshMutation *
dc.subject.meshBone Marrow Failure Disorders *
dc.subject.meshAnemia *
dc.titleFirst description of bone marrow failure syndrome in Spain caused by mutations in the ERCC6L2 gene.es
dc.typeArtigoes
dc.authorfides
dc.identifier.doi10.1111/bjh.19050
dc.identifier.essn1365-2141
dc.identifier.pmid37696499
dc.issue.number4es
dc.journal.titleBritish journal of haematologyes
dc.organizationServizo Galego de Saúde::Áreas Sanitarias (A.S.)::Área Sanitaria de Santiago de Compostela - Complexo Hospitalario Universitario de Santiago de Compostela::Hematoloxía clínicaes
dc.page.initiale102es
dc.page.finale107es
dc.relation.publisherversionhttps://onlinelibrary.wiley.com/doi/10.1111/bjh.19050es
dc.rights.accessRightsopenAccesses
dc.subject.cie10Anemia aplástica constitucional es
dc.subject.decsmutación *
dc.subject.decsanemia *
dc.subject.decsTrastornos de Fallo de la Médula Ósea *
dc.subject.keywordaplasiaes
dc.subject.keywordfallo medulares
dc.subject.keywordERCC6L2es
dc.subject.keywordCHUSes
dc.typefidesArtigo de Opinión (Editorial, Carta, ...)es
dc.typesophosArtículo de Opiniónes
dc.volume.number203es


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