Article
Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 20 Jul 2026
Altıntaş Mert, Yıldırım Miraç, Kırık Serkan, Kaynak Şahap Seda, Leblebici Can Berk, Cırdı Gökçe, Tekin Orgun Leman, Bektaş Ömer, Çobanoğulları Direk Meltem, Değerliyurt Aydan, Teber Serap
Abstract excerpt
BACKGROUND: Tubulinopathies encompass a clinically and neuroradiologically diverse group of neurodevelopmental disorders caused by mutations in genes encoding tubulins and microtubule-associated proteins. This study aims to delineate the extensive phenotypic and genotypic spectrum within a pediatric cohort. METHODS: We conducted a multicenter retrospective analysis of 15 pediatric patients from 12 unrelated...
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