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Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies. The most common CDG is caused by pathogenic variants in the phosphomannomutase 2 gene (PMM2), which impairs one of the...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley & Sons, Inc.
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7653259/ https://www.ncbi.nlm.nih.gov/pubmed/33204593 http://dx.doi.org/10.1002/jmd2.12160 |