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

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 glycosylati...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434597/
https://www.ncbi.nlm.nih.gov/pubmed/32530140
http://dx.doi.org/10.1002/mgg3.1304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7434597/
https://www.ncbi.nlm.nih.gov/pubmed/32530140
http://dx.doi.org/10.1002/mgg3.1304

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