Article
Ataxia-telangiectasia in pediatric neurology clinics: A retrospective multicenter study.
Pediatrics international : official journal of the Japan Pediatric Society - 1 Jan 2026
Şenol Hüseyin Bahadır, Akman Bilge, Parlar Tutku, Doğan Gizem, Güzin Yiğithan, Günay Çağatay, Gençpınar Pınar, Dündar Nihal Olgaç, Ünalp Aycan, Polat Ayşe İpek, Aydın Adem, Yiş Uluç, Hız Ayşe Semra
Abstract excerpt
BACKGROUND: Ataxia-telangiectasia (AT) is a rare disorder leading to multisystem involvement due to impaired DNA repair. Recent advances in targeted therapies highlight the importance of early diagnosis. This study aimed to evaluate clinical, radiological, and genetic variability in patients with AT and examine genotype-phenotype associations and diagnostic timing. METHODS: A retrospective study was conducted on...
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