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Novel Compound Heterozygous Variants in the COG5 Gene Causing Fetal Hydrops and Skeletal Dysplasia.

Molecular genetics & genomic medicine - 1 Apr 2026

Yang Qi, He Wei, Zhang Qiang, Yi Sheng, Zhou Xunzhao, Wang Linlin, Yi Shang, Qin Zailong, Luo Jingsi

Abstract excerpt

INTRODUCTION: Congenital Disorders of Glycosylation (CDG) are a complex and highly heterogeneous group of rare metabolic disorders characterized by defects in enzymes and transporter proteins crucial for glycosylation pathways, including N-linked, O-linked, and glycolipid glycosylation. To date, over 160 distinct subtypes have been identified. CDG are characterized by significant clinical heterogeneity, which...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41952427
DOI: 10.1002/mgg3.70215
PMCID: PMC13062644

Genes

COG5

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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