bibliographicCitation |
Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. J of Inher Metab Disea. 2021 Mar 26;44(4):1001–12. doi: 10.1002/jimd.12378. |