Article
Oligosaccharyltransferase complex-congenital disorders of glycosylation: A novel congenital disorder of glycosylation.
American journal of medical genetics. Part A - 1 Jun 2020
Bryant Emily M, Millichap John J, Spinelli Egidio, Calhoun Jeffrey D, Miller Christopher, Giannelli Jessica, Wolak Jacqueline, Sanders Victoria, Carvill Gemma L, Charrow Joel
Abstract excerpt
Congenital disorders of glycosylation (CDG) are metabolic disorders that affect the glycosylation of proteins and lipids. Since glycosylation affects all organs, CDG show a wide spectrum of phenotypes. We present a patient with microcephaly, dysmorphic facies, congenital heart defect, focal epilepsy, infantile spasms, skeletal dysplasia, and a type 1 serum transferrin isoelectrofocusing due to a novel CDG caused...
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