Article
Role of Targeted Next Generation Sequencing in the Etiological Work-Up of Congenitally Deaf Children.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology - 1 Jul 2018
Boudewyns An, van den Ende Jenneke, Sommen Manou, Wuyts Wim, Peeters Nils, Van de Heyning Paul, Van Camp Guy
Abstract excerpt
OBJECTIVES: The purpose of this study is to report the results of a comprehensive etiological work-up for congenitally deaf children including targeted next generation sequencing. STUDY DESIGN: Retrospective case review. SETTING: Tertiary referral center. PATIENTS: Fifty children with congenital, bilateral profound hearing loss (HL) (>90 dBnHL). INTERVENTIONS: Etiological work-up included testing for pathogenic...
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