A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy
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Fecha
2008Autor(es)
Rodríguez-Ballesteros, MontserratReynoso, Raúl
Olarte Giraldo, Margarita María
Villamar López, Manuela
Morera Pérez, Constantino
Santarelli, Rosamaria
Arslan, Edoardo
Medá, Carme
Curet, Carlos Augusto
Völter, Christiane
Sainz-Quevedo, Manuel
Castorina, Pierangela
Ambrosetti, Umberto
Berrettini, Stefano
Frei, Klemens
Tedín García, Socorro
Smith, Janine Margo
Tapia Toca, María Cruz
Cavallé Garrido, Laura
Gelvez Moyano, Nancy Yaneth
Primignani, Paola
Gómez-Rosas, Elena
Martín, Mirta
Moreno Pelayo, Miguel Ángel
Tamayo Fernández, Martha Lucia
Moreno Barral, José
Moreno Herrero, Felipe
Castillo Fernández del Pino, Ignacio del
Autor(es) Corporativo(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana
Tipo
Artículo de revista
ISSN
1059-7794 / 1098-1004 (Electrónico)
Páginas
823-831
Tipo de artículo
Artículo original
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Abstract
Hearing 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.
Palabras clave
Deterioro y neuropatía auditivaEnlace al recurso
https://onlinelibrary-wiley-com.ezproxy.javeriana.edu.co/doi/epdf/10.1002/humu.20708Fuente
Human Mutation; Vol. 29 Núm. 6 (2008)
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