Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient.
Vuillaumier-Barrot S, Schiff M, Mattioli F, Schaefer E, Dupont A, Dancourt J, Dupré T, Couvineau A, de Baulny HO, de Lonlay P, et al. Pediatr Res. 2019 Feb; 85(3):384-389. Epub 2018 Nov 12.