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

doi:10.1002/ajmg.10067

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Article

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

American journal of medical genetics - 22 Nov 2001

Mabuchi A, Haga N, Ikeda T, Manabe N, Ohashi H, Takatori Y, Nakamura K, Ikegawa S

Abstract excerpt

Pseudoachondroplasia (PSACH) is a common skeletal dysplasia characterized by disproportionate short stature, early-onset osteoarthrosis, and dysplasia of the spine, epiphysis, and metaphysis. Multiple epiphyseal dysplasia (MED) is a similar but less severe disorder characterized by dysplasia of the epiphysis. Both disorders are caused by mutations in the cartilage oligomeric matrix protein (COMP) gene. COMP...

Topics

Achondroplasia
Adolescent
Amino Acid Sequence
Cartilage Oligomeric Matrix Protein
Exons
Extracellular Matrix Proteins
Genotype
Glycoproteins
Humans
Male
Matrilin Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Phenotype

Protein Structure, Tertiary

Radiography

Sequence Homology, Amino Acid

Source

Open in PubMed

Identifiers

PMID: 11746044
DOI: 10.1002/ajmg.10067

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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