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
41362306 (PubMed )
Supplement: 7948771.f11.xlsx › H_rok1
The Swedish COG6-CDG experience and a comprehensive literature review.
Xia ZJ et al.
Jimd Reports, 2023
Evolving fetal phenotypes and clinical impact of progressive prenatal exome sequencing pathways: cohort study.
Mone F et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology, 2022
COG6-CDG: Novel variants and novel malformation.
Cirnigliaro L et al.
Birth Defects Research, 2022
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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
Key features and clinical variability of COG6-CDG.
Rymen D et al.
Molecular Genetics and Metabolism, 2015
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