Article
Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population.
Molecular diagnosis & therapy - 1 Jul 2025
Shadab Madiha, Ben-Mahmoud Afif, Martínez Völter Luis Nicolás, Abbasi Ansar Ahmed, Ku Bonsu, Ejaz Ahsan, Latif Zahid, Gupta Vijay, Owrang Daniel, Jang Mi-Hyeon, Zhang Zijin, Mohammad Rahema, Houlden Henry, Kim Hyung-Goo, Vona Barbara
Abstract excerpt
BACKGROUND: Molecular diagnostic rates for hereditary hearing loss vary by genetic ancestry, highlighting the importance of population-specific studies. In Pakistan, where consanguineous marriages are prevalent, genetic research has identified many autosomal recessive genes, advancing understanding of rare and novel hearing loss mechanisms. This study aimed to identify pathogenic genetic variants in 31 families...
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