ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, et al. J Inherit Metab Dis. 2021 Jul; 44(4):1001-1012. Epub 2021 Mar 26.