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dc.contributor.authorArroyo Carrera, I
dc.date.accessioned2022-04-18T11:29:43Z
dc.date.available2022-04-18T11:29:43Z
dc.date.issued2007-10
dc.identifier.citationBoletín del ECEMC: Rev Dismor Epidemiol 2007; V (nº 6): 2-11es_ES
dc.identifier.issn0210–3893es_ES
dc.identifier.urihttp://hdl.handle.net/20.500.12105/14029
dc.descriptionDismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCes_ES
dc.description.abstractThe Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital anomaly/mental retardation pattern caused by an inborn error of cholesterol metabolism. Deficient cholesterol synthesis is caused by inherited mutations of 7-dehydrocholesterol reductase gene, that catalyzes the final step of the pathway: the conversion of 7-dehydrocholesterol to cholesterol. To date, more than 125 different mutations have been identified and more than 750 patients have been reported with an extremely broad clinical spectrum. This paper describes two patients with a neonatal diagnosis and reviews the syndrome with special insights into genetics, pathogenesis, diagnosis, prenatal included, and treatmentes_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 Smith-Lemli-Opitzes_ES
dc.title.alternativeSmith-Lemli-Opitz syndromees_ES
dc.typeArtículoes_ES
dc.rights.licenseAtribución-NoComercial-CompartirIgual 4.0 Internacional*
dc.format.volumeVes_ES
dc.format.number6es_ES
dc.format.page2-11es_ES
dc.description.peerreviewedNoes_ES
dc.relation.publisherversionhttp://gesdoc.isciii.es/gesdoccontroller?action=download&id=02/08/2012-92818633bfes_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