University of Tunis El Manar Researchers Provide New Data on Deafness (Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health).

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Zdroj: Genomics & Genetics Weekly; 5/10/2024, p1813-1813, 1p
Abstrakt: A recent study conducted by researchers at the University of Tunis El Manar in Tunisia focused on the prevalence and genetic spectrum of syndromic deafness (SD) in the country. The study aimed to uncover the range of SD through a 14-year investigation of over 700 patients from four referral centers. Genetic analysis identified various diagnoses, including Usher syndrome, Waardenburg syndrome, cranio-facial-hand-deafness syndrome, and H syndrome. The research contributes valuable insights to inform molecular diagnosis approaches for SD in Tunisia and the broader North-African region, facilitating informed decision-making in clinical practice. [Extracted from the article]
Databáze: Complementary Index