Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).

European journal of medical genetics - 1 Jan 2019

Li Guoqiang, Xu Yufei, Hu Xuyun, Li Niu, Yao Ruen, Yu Tingting, Wang Xiumin, Guo Weiwei, Wang Jian

Abstract excerpt

COG6-CDG is a rare autosomal recessive disease of congenital disorders of glycosylation (CDG) caused by deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6), which is characterized by growth retardation, developmental disability, microcephaly, liver and gastrointestinal disease, recurrent infections and hypohidrosis/hyperthermia. Only eight mutations causing COG6 deficiencies have been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Vesicular Transport
Share to Congenital Disorders of Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Infant

Share to Mutation

Share to Phenotype

Source

Identifiers

PMID: 29709711
DOI: 10.1016/j.ejmg.2018.04.017

Genes

COG6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG).PMID 29709711Read ↗

Genetic analysis and prenatal diagnosis in a Chinese with growth retardation, abnormal liver function, and microcephaly.Semantic proximity Read ↗

Key features and clinical variability of COG6-CDG.Semantic proximity Read ↗

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of GlycosylationSemantic proximity Read ↗

[Clinical features and genetic analysis of a child with Congenital disorder of glycosylation due to novel variants of COG6 gene].Semantic proximity Read ↗

COG6‐CDG : Novel variants and novel malformationSemantic proximity Read ↗

Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.Semantic proximity Read ↗

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.Semantic proximity Read ↗

Component of oligomeric Golgi complex 1 deficiency leads to hypoglycemia: a case report and literature review.Semantic proximity Read ↗

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder of glycosylation.Semantic proximity Read ↗

Deficiency in COG5 causes a moderate form of congenital disorders of glycosylation.Semantic proximity Read ↗

A splice-altering intronic variant in two multiplex families refines autosomal recessive COG4-related congenital disorder of glycosylation.Semantic proximity Read ↗

COG6-CDG: Two Novel Variants and Milder Phenotype in a Chinese PatientSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.