ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines

Albokhari, D; Ng, BG; Guberinic, A; Daniel, EJP; Engelhardt, NM; Barone, R; Fiumara, A; Garavelli, L; Trimarchi, G; Wolfe, L; Raymond, KM; Morava, E; He, M; Freeze, HH; Lam, C; Edmondson, AC

Edmondson, AC (通讯作者),Childrens Hosp Philadelphia, Div Human Genet, Abramson Res Bldg,1007C,3615 Civ Ctr Blvd, Philadelphia, PA 19104 USA.

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