Cargando…
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...
| Autores principales: | , , , , , , , , , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2020
|
| Materias: | |
| 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 |