Article
Clinical Impact of Genetic Diagnosis of Sensorineural Hearing Loss in Adults.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Dec 2022
Corriols-Noval Patricia, López Simón Eugenia Carmela, Cadiñanos Juan, Diñeiro Marta, Capín Raquel, González Aguado Rocío, Costales Marcos María, Morales Angulo Carmelo, Cabanillas Farpón Rubén
Abstract excerpt
HYPOTHESIS: Adult genetic sensorineural hearing loss (SNHL) may be underestimated. BACKGROUND: The diagnosis of genetic hearing loss is challenging, given its extreme genetic and phenotypic heterogeneity, particularly in adulthood. This study evaluated the utility of next-generation sequencing (NGS) in the etiological diagnosis of adult-onset SNHL. MATERIALS AND METHODS: Adults (>16 yr old) with SNHL were...
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