Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Shaheen R, Mark P, Prevost CT, AlKindi A, Alhag A, Estwani F, Al-Sheddi T, Alobeid E, Alenazi MM, Ewida N, Ibrahim N, Hashem M, Abdulwahab F, Bryant EM, Spinelli E, Millichap J, Barnett SS, Kearney HM, Accogli A, Scala M, Capra V, Nigro V, Fu D, Alkuraya FS.
Shaheen R, et al. Among authors: nigro v.
Hum Mutat. 2019 Nov;40(11):2108-2120. doi: 10.1002/humu.23870. Epub 2019 Jul 29.
Hum Mutat. 2019.
PMID: 31301155