Browsing by Author "Akbeyaz, İsmail"
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Stress-induced Childhood Onset Neurodegeneration with Ataxia and Seizures (CONDSIAS) presenting with torticollis attacks: Phenotypic variability of the same mutation in two Turkish patients
Öztürk, Gülten; Ayaz, Akif; Topçu, Yasemin; Akyüz, Gülcan; Ünver, Olcay; Akbeyaz, İsmail; Ekinci, Gazanfer; Türkdoğan, Dilşad (Wolters Kluwer Medknow Publications, 2022)Two patients with the same genetic mutation in ADPRHL2 gene, which takes a role in DNA repair, transcription, telomer function, and apoptosis are presented.[1] Developmental delay, intellectual disability, epilepsy, ...