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(Springer Science and Business Media Deutschland GmbH, 2023)
The first congenital disorders of glycosylation patient (fetus) with homozygous cog5 c.95t>g variant
Introduction: Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides. Case Presentation: In this research, ...