Article
Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity.
International journal of biological macromolecules - 1 Oct 2024
Jenni Rim, Klaa Hedia, Khamessi Oussema, Chikhaoui Asma, Najjar Dorra, Ghedira Kais, Kraoua Ichraf, Turki Ilhem, Yacoub-Youssef Houda
Abstract excerpt
Ataxia Telangiectasia (AT) is a rare multisystemic neurodegenerative disease caused by biallelic mutations in the ATM gene. Few clinical studies on AT disease have been conducted in Tunisia, however, the mutational landscape is still undefined. Our aim is to determine the clinical and genetic spectrum of AT Tunisian patients and to explore the potential underlying mechanism of variant pathogenicity. Sanger...
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