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Article

Three families with mild PMM2-CDG and normal cognitive development.

American journal of medical genetics. Part A - 1 Jun 2017

Vals Mari-Anne, Morava Eva, Teeäär Kai, Zordania Riina, Pajusalu Sander, Lefeber Dirk J, Õunap Katrin

Abstract excerpt

Congenital disorders of glycosylation (CDG) are caused by defective glycosylation of proteins and lipids. PMM2-CDG is the most common subtype among the CDG. The severity of PMM2-CDG is variable. Patients often have a recognizable phenotype with neurological and multisystem symptoms that might cause early death. We report six patients from three families who are diagnosed with a clinically mild PMM2-CDG and have...

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Source

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Identifiers

PMID: 28425223
DOI: 10.1002/ajmg.a.38235
PMCID: PMC5444958

Genes

PMM2

Variants

Provenance

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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