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Article

RFT1-CDG: deafness as a novel feature of congenital disorders of glycosylation.

Journal of inherited metabolic disease - 1 Dec 2009

Jaeken J, Vleugels W, Régal L, Corchia C, Goemans N, Haeuptle M A, Foulquier F, Hennet T, Matthijs G, Dionisi-Vici C

Abstract excerpt

Congenital disorders of glycosylation (CDG) are genetic diseases due to defects in the synthesis of glycans and in the attachment of glycans to lipids and proteins. Actually, some 42 CDG are known including defects in protein N-glycosylation, in protein O-glycosylation, in lipid glycosylation, and in multiple and other glycosylation pathways. Most CDG are multisystem diseases and a large number of signs and...

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Source

Identifiers

PMID: 19856127
DOI: 10.1007/s10545-009-1297-3

Genes

RFT1

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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