Article
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss.
Molecular biology reports - 1 Dec 2020
Noman Muhammad, Bukhari Shazia A, Rehman Sakina, Qasim Muhammad, Ali Muhammad, Riazuddin Saima, Ahmed Zubair M
Abstract excerpt
Hearing loss (HL) is clinically and genetically heterogeneous disorder and is the most frequent occurring sensory deficit in humans. This study was conducted to decipher the genetic cause of HL occurring in two large consanguineous Pakistani families (GCNF-01, GCNF-03). Family history and pure tone audiometry of both families suggested prelingual HL, while the affected individuals of GCNF-01 also had low vision...
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