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dc.contributor.authorEsteban-Marfil, MV
dc.contributor.authorMartínez-Espinosa, N
dc.contributor.authorSantiago-Gutiérrez, C
dc.contributor.authorSierra-Córcoles, C
dc.contributor.authorCruz-Moreno, J de la
dc.contributor.authorSanchís-Calvo, A
dc.contributor.authorCrow, YJ
dc.contributor.authorMartínez-Frías, ML
dc.date.accessioned2022-04-18T11:44:36Z
dc.date.available2022-04-18T11:44:36Z
dc.date.issued2009-10
dc.identifier.citationBoletín del ECEMC: Rev Dismor Epidemiol 2009; V (nº 8): 2-8es_ES
dc.identifier.issn0210–3893es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/14060
dc.descriptionDismorfología y Genética Clínicaes_ES
dc.description.abstractAicardi-Goutières Syndrome (AGS) is a genetic disorder with autosomal recessive aetiology characterized by an early developed encephalopathy with severe physical and mental handicaps. The neonatal form (20% of the cases) shows a phenotype similar to a congenital infection, hence there exists the possibility of misdiagnosis and misinformation to parents about the risk of recurrence. We present a new case of AGS with a neonatal onset and also review clinical patterns, laboratory and neuroimaging findings, and new advances in geneticmolecular diagnosis that have allowed us to delineate the phenotypic spectrum and confirm the aetiology in more than 80% of cases.es_ES
dc.language.isospaes_ES
dc.publisherInstituto de Salud Carlos III (ISCIII) es_ES
dc.relation.isversionofPublisher's versiones_ES
dc.rights.urihttp://creativecommons.org/licenses/by-nc-sa/4.0/*
dc.titleSíndrome de Aicardi-Goutieres de presentación neonatal simulando infección congénitaes_ES
dc.title.alternativeAicardi-Goutières Syndrome of neonatal onset simulating a congenital infectiones_ES
dc.typeArtículoes_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.format.volumeVes_ES
dc.format.number8es_ES
dc.format.page2-8es_ES
dc.description.peerreviewedNoes_ES
dc.relation.publisherversionhttp://gesdoc.isciii.es/gesdoccontroller?action=download&id=02/08/2012-01f50095afes_ES
dc.identifier.journalBoletín del ECEMC: Revista de Dismorfología y Epidemiologíaes_ES
dc.repisalud.centroISCIII::Instituto de Investigación de Enfermedades Rarases_ES
dc.repisalud.institucionISCIIIes_ES
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses_ES


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Atribución-NoComercial-CompartirIgual 4.0 Internacional
This item is licensed under a: Atribución-NoComercial-CompartirIgual 4.0 Internacional