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Article

A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.

Journal of veterinary internal medicine - 1 May 2018

Friedenberg Steven G, Vansteenkiste Daniella, Yost Oriana, Treeful Amy E, Meurs Kathryn M, Tokarz Debra A, Olby Natasha J

Abstract excerpt

BACKGROUND: We aimed to identify mutations associated with osteochondromatosis in a litter of American Staffordshire Terrier puppies. HYPOTHESIS: We hypothesized that the associated mutation would be located in a gene that causes osteochondromatosis in humans. ANIMALS: A litter of 9 American Staffordshire puppies, their sire and dam, 3 of 4 grandparents, 26 healthy unrelated American Staffordshire Terriers, and...

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Source

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Identifiers

PMID: 29485212
DOI: 10.1111/jvim.15073
PMCID: PMC5980316

Genes

EXT2

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.

Related research

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A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.PMID 29485212Read ↗

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 ↗

Identification of Novel EXT Mutations in Patients with Hereditary Multiple Exostoses Using Whole-Exome Sequencing.Semantic proximity Read ↗

Exome sequencing and functional analysis identifies a novel mutation in EXT1 gene that causes multiple osteochondromas.Semantic proximity Read ↗

20 novel point mutations and one large deletion in EXT1 and EXT2 genes: report of diagnostic screening in a large Italian cohort of patients affected by hereditary multiple exostosis.Semantic proximity Read ↗

[Genetic analysis of five pedigrees affected with multiple osteochondromas].Semantic proximity Read ↗

Mutations in the EXT1 and EXT2 genes in Spanish patients with multiple osteochondromas.Semantic proximity Read ↗

Novel mutation of EXT2 identified in a large family with multiple osteochondromas.Semantic proximity Read ↗

Large-scale mutational analysis in the EXT1 and EXT2 genes for Japanese patients with multiple osteochondromasSemantic proximity Read ↗

Novel EXT1 mutation identified in a pedigree with hereditary multiple exostoses.Semantic proximity Read ↗

Identification of mutations in EXT1 and EXT2 genes in six Chinese families with multiple osteochondromas.Semantic proximity Read ↗

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

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