COG6-CDG: Novel variants and novel malformation

Cirnigliaro, L; Bianchi, P; Sturiale, L; Garozzo, D; Mangili, G; Keldermans, L; Rizzo, R; Matthijs, G; Fiumara, A; Jaeken, J; Barone, R

Barone, R (通讯作者),Univ Catania, Dept Clin & Expt Med, Child Neurol & Psychiat Sect, Policlin Via Santa Sofia 78, I-95123 Catania, Italy.

BIRTH DEFECTS RESEARCH, 2022; 114 (5-6): 165