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Article

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

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2017

Yang Aram, Cho Sung Yoon, Jang Ja-Hyun, Kim Jinsup, Kim Sook Za, Lee Beom Hee, Yoo Han-Wook, Jin Dong-Kyu

Abstract excerpt

Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we...

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Source

Identifiers

PMID: 28619360
DOI: 10.1016/j.cca.2017.06.010

Genes

COG8

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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