ALG12‐CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variant

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...

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Bibliographic Details
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
Format: Article
Language:English
Published: Wiley 2020-08-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
ALG12‐CDG
congenital disorder of N‐glycosylation
scoliosis
ventricular septal defect
Online Access:https://doi.org/10.1002/mgg3.1304

Internet

https://doi.org/10.1002/mgg3.1304

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