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Article

A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.

European journal of human genetics : EJHG - 1 Jun 2007

Morava Eva, Zeevaert Renate, Korsch Eckhard, Huijben Karin, Wopereis Suzan, Matthijs Gert, Keymolen Kathelijn, Lefeber Dirk J, De Meirleir Linda, Wevers Ron A

Abstract excerpt

We describe the clinical and biochemical characteristics in three patients from two different families diagnosed with Congenital Disorder of Glycosylation type IIe owing to a defect in Conserved Oligomeric Golgi complex (COG)7; one of the eight subunits of the COG. The siblings and an unrelated s...

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Source

Identifiers

PMID: 17356545
DOI: 10.1038/sj.ejhg.5201813

Genes

COG7
COG5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-17356545-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia.PMID 17356545Read ↗

Mutation of the COG complex subunit gene COG7 causes a lethal congenital disorder.Semantic proximity Read ↗

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COG8 deficiency causes new congenital disorder of glycosylation type IIh.Semantic proximity Read ↗

Mutations in COG2 encoding a subunit of the conserved oligomeric golgi complex cause a congenital disorder 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 ↗

COG5-CDG: expanding the clinical spectrum.Semantic proximity Read ↗

Effect of the c.2324C>T Mutation in the COG5 Subunit Gene of the Oligomeric Golgi Complex on Its ExpressionSemantic proximity Read ↗

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

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