%0 Journal Article
%A Amanat, Sana
%A Gallego-Martinez, Alvaro
%A Sollini, Joseph
%A Perez-Carpena, Patricia
%A Espinosa-Sanchez, Juan M.
%A Aran, Ismael
%A Soto-Varela, Andres
%A Batuecas-Caletrio, Angel
%A Canlon, Barbara
%A May, Patrick
%A Cederroth, Christopher R.
%A Lopez-Escamez, Jose A.
%T Burden of rare variants in synaptic genes in patients with severe tinnitus: An exome based extreme phenotype study
%D 2021
%U http://hdl.handle.net/10668/4136
%X tinnitus is a heterogeneous condition associated with audiological and/or mental disorders. Chronic, severe tinnitus is reported in 1% of the population and it shows a relevant heritability, according to twins, adoptees and familial aggregation studies. The genetic contribution to severe tinnitus is unknown since large genomic studies include individuals with self-reported tinnitus and large heterogeneity in the phenotype. The aim of this study was to identify genes for severe tinnitus in patients with extreme phenotype.
%K Tinnitus
%K Extreme phenotype
%K Axon initial segment
%K Exome sequencing
%K Meniere disease
%K Epilepsy
%K Genetic studies
%K Acúfeno
%K Fenotipo
%K Segmento inicial del axón
%K Secuenciación del exoma completo
%K Enfermedad de Meniere
%K Epilepsia
%K Estudios de asociación genética
%~