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Article

Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.

Nature genetics - 1 Jul 1995

Briggs M D, Hoffman S M, King L M, Olsen A S, Mohrenweiser H, Leroy J G, Mortier G R, Rimoin D L, Lachman R S, Gaines E S

Abstract excerpt

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) are dominantly inherited chondrodysplasias characterized by short stature and early-onset osteoarthrosis. The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19. Recently the gene for cartilage oligomeric matrix protein (COMP) was localized to chromosome 19p13.1. In...

Topics

Achondroplasia
Alleles
Amino Acid Sequence
Base Sequence
Calcium
Calmodulin
Cartilage
Cartilage Oligomeric Matrix Protein
Chromosome Mapping
Chromosomes, Human, Pair 19

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

DNA, Satellite

Epidermal Growth Factor

Extracellular Matrix Proteins

Female

Genes, Dominant

Genetic Linkage

Glycoproteins

Humans

Source

Identifiers

PMID: 7670472
DOI: 10.1038/ng0795-330

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7670472-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.PMID 7670472Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.Semantic proximity Read ↗

Novel mutation in exon 18 of the cartilage oligomeric matrix protein gene causes a severe pseudoachondroplasia.Semantic proximity Read ↗

Identification of twelve mutations in cartilage oligomeric matrix protein (COMP) in patients with pseudoachondroplasia.Semantic proximity Read ↗

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

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Mutations in exon 17B of cartilage oligomeric matrix protein (COMP) cause pseudoachondroplasia.Semantic proximity Read ↗

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Identification of nine novel mutations in cartilage oligomeric matrix protein in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

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Mutations in cartilage oligomeric matrix protein causing pseudoachondroplasia and multiple epiphyseal dysplasia affect binding of calcium and collagen I, II, and IX.Semantic proximity Read ↗

Novel types of COMP mutations and genotype-phenotype association in pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

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