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COG6‐CDG : Novel variants and novel malformation

23 Jan 2022

Abstract excerpt

BACKGROUND: Deficiency of Conserved Oligomeric Golgi (COG) subunits (COG1-8) is characterized by both N- and O-protein glycosylation defects associated with destabilization and mislocalization of Golgi glycosylation machinery components (COG-CDG). Patients with COG defects present with neurological and multisystem involvement and possible malformation occurrence. Eighteen patients with COG6-CDG (COG6 mutations)...

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PMID: 35068072
DOI: 10.1002/bdr2.1981

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