Expandingthe Phenotypic Spectrum of PUS3 Deficiency: A p.Tyr71Cys Case Demonstrating a Stable, Nonprogressive Leukoencephalopathy Pattern.

Aygün H., Şahin I., Taşkın A., Ceylan A. C., Karaali K., Köken Ö.

Molecular syndromology, 2026 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2026
  • Doi Numarası: 10.1159/000550869
  • Dergi Adı: Molecular syndromology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest)
  • Akdeniz Üniversitesi Adresli: Evet