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

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

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2024

Zhang Liyu, Yang Ying, Che Fengyu, Li Benchang, Mo Lidangzhi, Wang Guoxia, Zhao Jiangang

Abstract excerpt

OBJECTIVE: To analyze the clinical characteristics of a child with Congenital disorder of glycosylation due to compound heterozygous variants of COG6 gene (COG6-CDG). METHODS: A child who was admitted to Xi'an Children's Hospital on January 10, 2023 was selected as the study subject. Clinical data were collected. Pathogenic variants were analyzed by whole exome sequencing, and candidate variants were verified by...

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 Exome Sequencing

Share to Genetic Testing

Share to Infant

Share to Infant, Newborn

Share to Mutation

Source

Identifiers

PMID: 39528286
DOI: 10.3760/cma.j.cn511374-20240318-00177

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical features and genetic analysis of a child with Congenital disorder of glycosylation due to novel variants of COG6 gene].PMID 39528286Read ↗

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

Identification of Two Novel Mutations in COG5 Causing Congenital Disorder of GlycosylationSemantic 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: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex development.Semantic proximity Read ↗

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

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

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

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patientsSemantic proximity Read ↗

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

Congenital disorders of glycosylation (CDG): state of the art in 2022.Semantic proximity Read ↗

Clinical and genetic characterization of Congenital disorders of glycosylation in 20 Chinese patients: novel variants and genotype-phenotype correlationsSemantic proximity Read ↗

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read ↗

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