Genotypic and phenotypic heterogeneity in tubulinopathies: insights from a Turkish multicenter cohort

Mert Altıntaş M. Yıldırım Serkan Kırık Seda Kaynak Şahap C. Leblebici G. Cırdı Leman Tekin Orgun Ömer Bektaş Meltem Çobanoğulları Direk A. Değerliyurt S. Teber

Jul 2026 · Neurological Sciences · Vol 47 · 0 citations · 63 references

Medicine

TL;DR

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.

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