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Article

Clinical and molecular studies of EXT1/EXT2 in Bulgaria.

Journal of inherited metabolic disease - 1 Aug 2011

Stancheva-Ivanova Malina Kirilova, Wuyts Wim, van Hul Els, Radeva Briguita Ivanova, Vazharova Radoslava Vasileva, Sokolov Todor Petrov, Vladimirov Borislav Yordanov, Apostolova Margarita Dimitrova, Kremensky Ivo Marinov

Abstract excerpt

EXT1/EXT2-CDG (Multiple cartilagineous exostoses, hereditary multiple osteochondroma (MO); OMIM 133700/133701) are common defects of O-xylosylglycan glycosylation. The diagnostic criteria are at least two osteochondromas of the juxta-epiphyseal region of long bones with in the majority of cases a positive family history and/or mutation in one of the EXT genes. The authors report data on clinical symptoms and...

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Source

Identifiers

PMID: 21499719
DOI: 10.1007/s10545-011-9314-8

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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Clinical and molecular studies of EXT1/EXT2 in Bulgaria.PMID 21499719Read ↗

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Mutational screening of EXT1 and EXT2 genes in Polish patients with hereditary multiple exostoses.Semantic proximity Read ↗

Identification of Novel Mutations in the EXT1 and EXT2 Genes of Chinese Patients with Hereditary Multiple Osteochondromas.Semantic proximity Read ↗

Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation SpectrumSemantic proximity Read ↗

Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.Semantic proximity Read ↗

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