Article
Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Aug 2024
Martin-Lagos Juan, Bernal-Robledano Alberto, Perez-Carpena Patricia, Lamolda Mar, Escalera-Balsera Alba, Frejo Lidia, Lopez-Escamez Jose A
Abstract excerpt
PURPOSE: To describe the clinical, audiological, and psychometric features observed in patients with chronic tinnitus and rare variants in the ANK2 gene. METHODS: We report a case series of 12 patients with chronic tinnitus and heterozygous variants in the ANK2 gene. Tinnitus phenotyping included audiological (standard and high-frequency audiometry, Auditory Brainstem Responses (ABR) and Auditory Middle Latency...
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