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Article

Mitotic Intragenic Recombination: A Mechanism of Survival for Several Congenital Disorders of Glycosylation.

American journal of human genetics - 4 Feb 2016

Kane Megan S, Davids Mariska, Adams Christopher, Wolfe Lynne A, Cheung Helen W, Gropman Andrea, Huang Yan, Ng Bobby G, Freeze Hudson H, Adams David R, Gahl William A, Boerkoel Cornelius F

Abstract excerpt

Congenital disorders of glycosylation (CDGs) are disorders of abnormal protein glycosylation that affect multiple organ systems. Because most CDGs have been described in only a few individuals, our understanding of the associated phenotypes and the mechanisms of individual survival are limited. In the process of studying two siblings, aged 6 and 11 years, with MOGS-CDG and biallelic MOGS (mannosyl-oligosaccharide...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 26805780
DOI: 10.1016/j.ajhg.2015.12.007
PMCID: PMC4746335

Genes

MOGS
MPI
PMM2
ALG1
ALG12
ALG3
DPAGT1

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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