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Article

A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.

Scientific reports - 18 Sept 2014

Delgado M A, Martinez-Domenech G, Sarrión P, Urreizti R, Zecchini L, Robledo H H, Segura F, de Kremer R Dodelson, Balcells S, Grinberg D, Asteggiano C G

Abstract excerpt

Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and...

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Identifiers

PMID: 25230886
DOI: 10.1038/srep06407
PMCID: PMC4166712

Genes

EXT1
EXT2

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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