Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients

Abstract Background Sensorineural hearing loss (SNHL) is the most common sensory impairment. Comprehensive next-generation sequencing (NGS) has become the standard for the etiological diagnosis of early-onset SNHL. However, accurate selection of target genomic regions (gene panel/exome/genome), anal...

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Autores principales:	Rubén Cabanillas, Marta Diñeiro, Guadalupe A. Cifuentes, David Castillo, Patricia C. Pruneda, Rebeca Álvarez, Noelia Sánchez-Durán, Raquel Capín, Ana Plasencia, Mónica Viejo-Díaz, Noelia García-González, Inés Hernando, José L. Llorente, Alfredo Repáraz-Andrade, Cristina Torreira-Banzas, Jordi Rosell, Nancy Govea, Justo Ramón Gómez-Martínez, Faustino Núñez-Batalla, José A. Garrote, Ángel Mazón-Gutiérrez, María Costales, María Isidoro-García, Belén García-Berrocal, Gonzalo R. Ordóñez, Juan Cadiñanos
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	BMC 2018-07-01
Colección:	BMC Medical Genomics
Materias:	Hereditary Hearing loss Precision Diagnostics NGS Gene panel
Acceso en línea:	http://link.springer.com/article/10.1186/s12920-018-0375-5
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