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Case Report: DPM1-CDG: Novel Variant with Severe Phenotype and Literature Review
Background: Congenital disorders of glycosylation (CDG) type I include variants in the DPM1 gene leading to DPM1-CDG. The nine previously reported patients showed developmental delay, seizures, electroencephalography abnormalities and dysmorphic features with varying disease onset and severity. Meth...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9326363/ https://www.ncbi.nlm.nih.gov/pubmed/35910228 http://dx.doi.org/10.3389/fgene.2022.889829 |