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M. Yıldırım

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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. · 0 citations