Clinical and genetic spectrum of Ataxia Telangiectasia Tunisian patients: Bioinformatic analysis unveil mechanisms of ATM variants pathogenicity
-
Published:2024-10
Issue:
Volume:278
Page:134444
-
ISSN:0141-8130
-
Container-title:International Journal of Biological Macromolecules
-
language:en
-
Short-container-title:International Journal of Biological Macromolecules
Author:
Jenni Rim,
Klaa Hedia,
Khamessi Oussema,
Chikhaoui Asma,
Najjar Dorra,
Ghedira Kais,
Kraoua Ichraf,
Turki Ilhem,
Yacoub-Youssef HoudaORCID
Reference73 articles.
1. Autosomal recessive cerebellar ataxias;Palau;Orphanet J. Rare Dis.,2006
2. Ataxia-Telangiectasia;Riboldi,2024
3. Ataxia telangiectasia: a review;Rothblum-Oviatt;Orphanet J. Rare Dis.,2016
4. Ataxia telangiectasia: a single center experience in a decade;Mansour;Pediatric Sciences Journal,2022
5. Ataxia-telangiectasia: a review of clinical features and molecular pathology;Amirifar;Pediatric Allergy Immunology,2019