Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.
American Journal Of Human Genetics
Morava, Eva E; Schatz, Ulrich A UA; Torring, Pernille M PM; Abbott, Mary-Alice MA; Baumann, Matthias M; Brasch-Andersen, Charlotte C; Chevalier, Nathalie N; Dunkhase-Heinl, Ulrike U; Fleger, Martin M; Haack, Tobias B TB; Nelson, Stephen S; Potelle, Sven S; Radenkovic, Silvia S; Bommer, Guido T GT; Van Schaftingen, Emile E; Veiga-da-Cunha, Maria M