COG6‐CDG: Novel variants and novel malformation-论文-万方医学网

COG6‐CDG: Novel variants and novel malformation

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作者： Lara Cirnigliaro ^[1] ; Paolo Bianchi ^[2] ; Luisa Sturiale ^[3] ; Domenico Garozzo ^[4] ; Giovanna Mangili ^[5] ; Liesbeth Keldermans ^[6] ; Renata Rizzo ; Gert Matthijs ; Agata Fiumara ; Jaak Jaeken ; Rita Barone

作者单位： Child Neurology and Psychiatry Section, Department of Clinical and Experimental Medicine,University ^[1] Department of Human Genetics,KU Leuven ^[2] Department of Development and Regeneration, Centre for Metabolic Diseases,University Hospital ^[3] Referral Centre for Inherited Metabolic Disease,Department of Clinical and Experimental Medicine ^[4] CNR, Institute for Polymers, Composites and Biomaterials,IPCB ^[5] Neonatology Unit,Giovanni XXIII Hospital ^[6]

关键词 COG6 congenital disorder of glycosylation (CDG)corpus callosum dysgenesis combined N‐ and O‐glycosylation defect congenital ano‐rectal malformations

发布时间 2022-04-29

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