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Case report: A founder UGDH variant associated with developmental epileptic encephalopathy in Saudi Arabia

16 Jan 2024

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a group of more than 100 rare genetic disorders characterized by impaired glycosylation of proteins and lipids. The clinical presentation of CDG varies tremendously, from single-organ to multi-organ involvement and from prenatal death to a normal adult phenotype. In this case study, we report a large consanguineous family with multiple children suffering from...

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PMID: 38292436
DOI: 10.3389/fgene.2023.1294214

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