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    • Vanishing white matter disease with a novel EIF2B5 mutation: A 10-year follow-up 

      Bektas, Gonca; YEŞİL, GÖZDE; Ozkan, Melis Ulak; Yildiz, Edibe Pembegul; Uzunhan, Tugce Aksu; Caliskan, Mine (2018-08-01)
      Background: Vanishing white matter disease is a heterogeneous disorder caused by mutation in one of the five genes encoding subunits of the eukaryotic initiation factor eIF2B. It is a heterogeneous disorder due to phenotypic ...