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Genotype-Phenotype Correlations in PMM2-CDG.

Genes - 21 Oct 2021

Vaes Laurien, Rymen Daisy, Cassiman David, Ligezka Anna, Vanhoutvin Nele, Quelhas Dulce, Morava Eva, Witters Peter

Abstract excerpt

PMM2-CDG is a rare disease, causing hypoglycosylation of multiple proteins, hence preventing full functionality. So far, no direct genotype-phenotype correlations have been identified. We carried out a retrospective cohort study on 26 PMM2-CDG patients. We collected the identified genotype, as well as continuous variables indicating the disease severity (based on Nijmegen Pediatric CDG Rating Score or NPCRS) and...

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Identifiers

PMID: 34828263
DOI: 10.3390/genes12111658
PMCID: PMC8620515

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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.

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