ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant
Abstract 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 gly...
Main Authors: | María Eugenia de laMorena‐Barrio, María Sabater, Belén de laMorena‐Barrio, Renee L. Ruhaak, Antonia Miñano, José Padilla, Mara Toderici, Vanessa Roldán, Juan R. Gimeno, Vicente Vicente, Javier Corral |
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Format: | Article |
Language: | English |
Published: |
Wiley
2020-08-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1304 |
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