Article
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Human genetics - 1 May 2024
Colbert Brett M, Lanting Cris, Smeal Molly, Blanton Susan, Dykxhoorn Derek M, Tang Pei-Ciao, Getchell Richard L, Velde Hedwig, Fehrmann Mirthe, Thorpe Ryan, Chapagain Prem, Elkhaligy Heidy, Kremer Hannie, Yntema Helger, Haer-Wigman Lonneke, Redfield Shelby, Sun Tieqi, Bruijn Saskia, Plomp Astrid, Goderie Thadé, van de Kamp Jiddeke, Free Rolien H, Wassink-Ruiter Jolien Klein, Widdershoven Josine, Vanhoutte Els, Rotteveel Liselotte, Kriek Marjolein, van Dooren Marieke, Hoefsloot Lies, de Gier Heriette H W, Schaefer Amanda, Kolbe Diana, Azaiez Hela, Rabie Grace, Aburayyan Armal, Kawas Mariana, Kanaan Moien, Holder Jourdan, Usami Shin-Ichi, Chen Zhengyi, Dai Pu, Holt Jeffrey, Nelson Rick, Choi Byung Yoon, Shearer Eliot, Smith Richard J H, Pennings Ronald, Liu Xue Zhong
Abstract excerpt
TMPRSS3-related hearing loss presents challenges in correlating genotypic variants with clinical phenotypes due to the small sample sizes of previous studies. We conducted a cross-sectional genomics study coupled with retrospective clinical phenotype analysis on 127 individuals. These individuals were from 16 academic medical centers across 6 countries. Key findings revealed 47 unique TMPRSS3 variants with...
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