Associated Papers
COG Complex in Golgi Trafficking and Glycosylation.
Sumya FT et al.
Sub-cellular Biochemistry, 2026
COG6-related prenatal phenotype (CDG2L): Clinico-pathological report and review of the literature.
Guterman S et al.
Molecular Genetics & Genomic Medicine, 2025
Insights Into the Pathological Glycosylation Associated With COG6-CDG.
Pakanová Z et al.
Human Mutation, 2025
Genetic Spectrum of Congenital Anomalies of the Kidney and Urinary Tract in Chinese Newborn Genome Project.
Huang Z et al.
Kidney International Reports, 2023
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ et al.
Jimd Reports, 2023
Singleton exome sequencing of 90 fetuses with ultrasound anomalies revealing novel disease-causing variants and genotype-phenotype correlations.
Smogavec M et al.
European Journal of Human Genetics : Ejhg, 2022
Lethal COG6-CDG in neonatal patient with arachnodactyly, joint contractures, and skin manifestations: Founder mutation in the Southeastern European population?
Ververi A et al.
Pediatric Dermatology, 2022
COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L et al.
Birth Defects Research, 2022
Getting Sugar Coating Right! The Role of the Golgi Trafficking Machinery in Glycosylation.
D'Souza Z et al.
Cells, 2021
Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.
Zhao P et al.
Molecular Genetics & Genomic Medicine, 2021
Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.
Lugli L et al.
American Journal of Medical Genetics. Part A, 2021
Golgi inCOGnito: From vesicle tethering to human disease.
D'Souza Z et al.
Biochimica Et Biophysica Acta. General Subjects, 2020
Neonatal presentation of COG6-CDG with prominent skin phenotype.
Komlosi K et al.
Jimd Reports, 2020
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).
Li G et al.
European Journal of Medical Genetics, 2019
Hypothesis: lobe A (COG1-4)-CDG causes a more severe phenotype than lobe B (COG5-8)-CDG.
Haijes HA et al.
Journal of Medical Genetics, 2018
Key features and clinical variability of COG6-CDG.
Rymen D et al.
Molecular Genetics and Metabolism, 2015