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Article

ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.

BMC ophthalmology - 5 Jun 2021

Farolfi Martina, Cechova Anna, Ondruskova Nina, Zidkova Jana, Kousal Bohdan, Hansikova Hana, Honzik Tomas, Liskova Petra

Abstract excerpt

BACKGROUND: ALG3-CDG is a rare autosomal recessive disease. It is characterized by deficiency of alpha-1,3-mannosyltransferase caused by pathogenic variants in the ALG3 gene. Patients manifest with severe neurologic, cardiac, musculoskeletal and ophthalmic phenotype in combination with dysmorphic features, and almost half of them die before or during the neonatal period. CASE PRESENTATION: A 23 months-old girl...

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Identifiers

PMID: 34090370
DOI: 10.1186/s12886-021-02013-2
PMCID: PMC8180164

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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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