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TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss

Several TBC1D24 variants are causally involved in the development of profound, prelingual hearing loss (HL) and different epilepsy syndromes inherited in an autosomal recessive manner. Only two TBC1D24 pathogenic variants have been linked with postlingual progressive autosomal dominant HL (ADHL). To...

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Detalles Bibliográficos
Autores principales: Oziębło, Dominika, Leja, Marcin L., Lazniewski, Michal, Sarosiak, Anna, Tacikowska, Grażyna, Kochanek, Krzysztof, Plewczynski, Dariusz, Skarżyński, Henryk, Ołdak, Monika
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8119487/
https://www.ncbi.nlm.nih.gov/pubmed/33986365
http://dx.doi.org/10.1038/s41598-021-89645-y