Jul 2026
Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort
A multicenter retrospective analysis of 15 pediatric patients from 12 unrelated families with genetically confirmed tubulinopathies across five tertiary centers in Turkey identified a rare case of TUBGCP2-related tubulinopathy presenting with cystic leukomalacia, expanding the known radiological spectrum.
Mert Altıntaş, M. Yıldırım, Serkan Kırık et al.
· Neurological Sciences · 0 citations