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Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants.

Juan Martin-LagosAlberto Bernal-RobledanoPatricia Perez-CarpenaMar LamoldaAlba Escalera-BalseraLidia FrejoJose-Antonio Lopez-Escamez
Published in: 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 (2024)
Patients with ANK2 variants and severe tinnitus exhibit an endophenotype featuring hyperacusis, persistent noise-like tinnitus, high-frequency hearing loss, and decreased amplitudes in AMLR. However, anxiety, depression, and cognitive symptoms vary among individuals.
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