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Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of the population. It typically presents in adulthood and half of the patients have a positive family history. The pathophysiology of otosclerosis is poorly understood. A previous genome-wide association study (...

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Detalles Bibliográficos
Autores principales: Rämö, Joel T., Kiiskinen, Tuomo, Seist, Richard, Krebs, Kristi, Kanai, Masahiro, Karjalainen, Juha, Kurki, Mitja, Hämäläinen, Eija, Häppölä, Paavo, Havulinna, Aki S., Hautakangas, Heidi, Mägi, Reedik, Palta, Priit, Esko, Tõnu, Metspalu, Andres, Pirinen, Matti, Karczewski, Konrad J., Ripatti, Samuli, Milani, Lili, Stankovic, Konstantina M., Mäkitie, Antti, Daly, Mark J., Palotie, Aarno
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9849444/
https://www.ncbi.nlm.nih.gov/pubmed/36653343
http://dx.doi.org/10.1038/s41467-022-32936-3