Article
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant.
Molecular genetics & genomic medicine - 1 Aug 2020
de la Morena-Barrio María Eugenia, Sabater María, de la Morena-Barrio Belén, Ruhaak Renee L, Miñano Antonia, Padilla José, Toderici Mara, Roldán Vanessa, Gimeno Juan R, Vicente Vicente, Corral Javier
Abstract excerpt
BACKGROUND: Congenital disorder of glycosylation (CDG) type I is a group of rare disorders caused by recessive mutations in up to 25 genes that impair the N-glycan precursor formation and its transfer to proteins resulting in hypoglycosylation of multiple proteins. Congenital disorder of glycosylation causes multisystem defects usually with psychomotor delay that is diagnosed in the infancy. We aim to supply...
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