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, pp.1-9, 2026 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Publication Date: 2026
  • Doi Number: 10.1159/000550869
  • Journal Name: Molecular syndromology
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, Natural Science Collection (ProQuest), Biological Science Database (ProQuest), Health Research Premium Collection (ProQuest), Pharma Collection (ProQuest)
  • Page Numbers: pp.1-9
  • Keywords: Neurodevelopmental disorder, p.Tyr71Cys variant, Pseudouridine synthase, PUS3, White matter lesions
  • Akdeniz University Affiliated: Yes