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dc.rights.licenceAttribution-NonCommercial 4.0 International*
dc.contributor.authorPontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
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.identifier.issn1059-7794 / 1098-1004 (Electrónico)spa
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.description.tipoarticuloArtículo originalspa
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
dc.type.localArtículo de revistaspa

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Attribution-NonCommercial 4.0 International
Except where otherwise noted, this item's license is described as Attribution-NonCommercial 4.0 International