Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34

Ranad Shaheen, Paul Mark, Christopher T. Prevost, Adila AlKindi, Ahmad Alhag, Fatima Estwani, Tarfa Al-Sheddi, Eman Alobeid, Mona M. Alenazi, Nour Ewida, Niema Ibrahim, Mais Hashem, Firdous Abdulwahab, Emily M. Bryant, Egidio Spinelli, John Millichap, Sarah S. Barnett, Hutton M. Kearney, Andrea Accogli, Marcello ScalaValeria Capra, Vincenzo Nigro, Dragony Fu^*, Fowzan S. Alkurayaإظهار 4 المزيدإظهار أقل