Article
Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population-Specific Variants and Clinical Correlations.
Clinical genetics - 1 Aug 2026
Diogo-Cavassana Stella, Alencar-Coutinho Danillo, Abreu-Oberhuber Rafaella, Paramo-Neto Maria Eduarda, Oiticica Jeanne, Bento Ricardo Ferreira, Batissoco Ana Carla, Lezirovitz Karina
Abstract excerpt
Hearing loss (HL) is the most prevalent sensory disorder globally and a major public health challenge in Brazil, affecting over 1.5 million individuals. While over 150 HL-associated genes have been identified, the genetic architecture in underrepresented populations remains poorly defined, often limiting diagnostic yield and precision medicine. We assessed the diagnostic performance of a comprehensive 218-gene HL...
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