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Article

Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.

Nature genetics - 1 Aug 2001

Chapman K L, Mortier G R, Chapman K, Loughlin J, Grant M E, Briggs M D

Abstract excerpt

Multiple epiphyseal dysplasia (MED) is a relatively mild and clinically variable osteochondrodysplasia, primarily characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. Mutations in the genes encoding cartilage oligomeric matrix protein (COMP) and type IX collagen (COL9A2 and COL9A3) have previously been shown to cause different forms of MED (refs. 4-13). These...

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

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Source

Identifiers

PMID: 11479597
DOI: 10.1038/ng573

Genes

COMP
MATN3

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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Mutations in the region encoding the von Willebrand factor A domain of matrilin-3 are associated with multiple epiphyseal dysplasia.PMID 11479597Read ↗

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia.Semantic proximity Read ↗

COL9A3: A third locus for multiple epiphyseal dysplasia.Semantic proximity Read ↗

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia.Semantic proximity Read ↗

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.Semantic proximity Read ↗

Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia.Semantic proximity Read ↗

A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity.Semantic proximity Read ↗

Two families with spondylo-epi-metaphyseal dysplasia due to compound heterozygocity in the vWFA domain of MATN3.Semantic proximity Read ↗

Multiple epiphyseal dysplasia.Semantic proximity Read ↗

Splicing mutations in the COL3 domain of collagen IX cause multiple epiphyseal dysplasia.Semantic proximity Read ↗

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.Semantic proximity Read ↗

Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.Semantic proximity Read ↗

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