Article
TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss.
Scientific reports - 13 May 2021
Oziębło Dominika, Leja Marcin L, Lazniewski Michal, Sarosiak Anna, Tacikowska Grażyna, Kochanek Krzysztof, Plewczynski Dariusz, Skarżyński Henryk, Ołdak Monika
Abstract excerpt
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 determine the role of TBC1D24 in the development of ADHL and to characterize the TBC1D24-related ADHL, clinical...
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