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A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

dc.rights.licenceAtribución-NoComercial 4.0 Internacional*
dc.contributor.authorRodríguez-Ballesteros, Montserrat
dc.contributor.authorReynoso, Raúl
dc.contributor.authorOlarte Giraldo, Margarita María
dc.contributor.authorVillamar López, Manuela
dc.contributor.authorMorera Pérez, Constantino
dc.contributor.authorSantarelli, Rosamaria
dc.contributor.authorArslan, Edoardo
dc.contributor.authorMedá, Carme
dc.contributor.authorCuret, Carlos Augusto
dc.contributor.authorVölter, Christiane
dc.contributor.authorSainz-Quevedo, Manuel
dc.contributor.authorCastorina, Pierangela
dc.contributor.authorAmbrosetti, Umberto
dc.contributor.authorBerrettini, Stefano
dc.contributor.authorFrei, Klemens
dc.contributor.authorTedín García, Socorro
dc.contributor.authorSmith, Janine Margo
dc.contributor.authorTapia Toca, María Cruz
dc.contributor.authorCavallé Garrido, Laura
dc.contributor.authorGelvez Moyano, Nancy Yaneth
dc.contributor.authorPrimignani, Paola
dc.contributor.authorGómez-Rosas, Elena
dc.contributor.authorMartín, Mirta
dc.contributor.authorMoreno Pelayo, Miguel Ángel
dc.contributor.authorTamayo Fernández, Martha Lucia
dc.contributor.authorMoreno Barral, José
dc.contributor.authorMoreno Herrero, Felipe
dc.contributor.authorCastillo Fernández del Pino, Ignacio del
dc.date.accessioned2019-11-25T14:38:22Z
dc.date.accessioned2020-04-15T13:32:16Z
dc.date.available2019-11-25T14:38:22Z
dc.date.available2020-04-15T13:32:16Z
dc.date.created2008
dc.identifierhttps://onlinelibrary-wiley-com.ezproxy.javeriana.edu.co/doi/epdf/10.1002/humu.20708spa
dc.identifier.issn1059-7794 / 1098-1004 (Electrónico)spa
dc.identifier.urihttp://hdl.handle.net/10554/45800
dc.languagespaspa
dc.rights.urihttp://creativecommons.org/licenses/by-nc/4.0/*
dc.sourceHuman Mutation; Vol. 29 Núm. 6 (2008)spa
dc.subjectDeterioro y neuropatía auditivaspa
dc.titleA multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathyspa
dc.typeinfo:eu-repo/semantics/article
dc.type.hasversionhttp://purl.org/coar/version/c_ab4af688f83e57aa
dc.description.quartilewosQ1spa
dc.description.quartilescopusQ1spa
dc.identifier.doihttps://doi.org/10.1002/humu.20708spa
dc.description.tipoarticuloArtículo originalspa
dc.description.paginas823-831spa
dc.format.soportePapel / Electrónicospa
dc.description.abstractenglishHearing impairment (HI) is a highly heterogeneous group of disorders caused by environmental and genetic factors, with a global incidence of about 1 in every 650-1,000 newborns [Morton, 1991; Mehl and Thomson, 2002]. When the onset of the HI takes place before speech acquisition (prelingual HI), it represents a serious handicap for normal communication and social integration. In developed countries, over 60% of all cases result from a genetic cause [Petit et al., 2001]. Nonsyndromic HI (NSHI) encompasses a variety of disorders, the common feature of which is that the hearing deficit is not associated with any other clinical sign (about 70% of all inherited HI). Different patterns of inheritance are observed in NSHI, but autosomal recessive forms are by far the most frequent.spa
dc.type.localArtículo de revistaspa
dc.contributor.corporatenamePontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana


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