Associated Papers
Expanding the molecular and clinical phenotypes of FUT8-CDG.
Ng BG et al.
Journal of Inherited Metabolic Disease, 2020
Childhood glaucoma in association with congenital disorder of glycosylation caused by mutations in fucosyltransferase 8.
Schweigert A et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2019
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Ng BG et al.
American Journal of Human Genetics, 2018
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