Identification of Compound Heterozygous DPM1 Variants in a Pediatric Patient With Congenital Disorder of Glycosylation Type Ie
Congenital disorders of glycosylation (CDG) constitute a group of rare genetic metabolic diseases caused by defects in the synthesis and modification of oligosaccharides. CDG-Ie is a rare subtype caused by mutations in the DPM1 gene. We describe a female patient who presented with ocular abnormaliti...
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| Hlavní autoři: | , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wiley
2025-01-01
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| Edice: | Case Reports in Pediatrics |
| On-line přístup: | http://dx.doi.org/10.1155/crpe/5573260 |
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