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Article

A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.

International journal of molecular medicine - 1 Jan 2002

Shotelersuk Vorasuk, Punyashthiti Rachaneekorn

Abstract excerpt

Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by disproportionate short stature and precocious osteoarthritis. Radiographic manifestations include epiphyseal, metaphyseal and vertebral abnormalities. Mutations in the cartilage oligomeric matrix protein (COMP) have been identified to cause PSACH. Most of them affect one of the eight calcium-binding domains of COMP. We describe a...

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Source

Identifiers

PMID: 11745002

Genes

COMP

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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Research trail→

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A novel mutation of the COMP gene in a Thai family with pseudoachondroplasia.PMID 11745002Read ↗

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

A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.Semantic proximity Read ↗

Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia.Semantic proximity Read ↗

Clinical, Biochemical, Radiological, Genetic and Therapeutic Analysis of Patients with COMP Gene Variants.Semantic proximity Read ↗

Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

A Novel COMP Mutated Allele Identified in a Chinese Family with Pseudoachondroplasia.Semantic proximity Read ↗

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

Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.Semantic proximity Read ↗

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

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

COMP mutation screening as an aid for the clinical diagnosis and counselling of patients with a suspected diagnosis of pseudoachondroplasia or multiple epiphyseal dysplasia.Semantic proximity Read ↗

Identification of novel and recurrent mutations in the calcium binding type III repeats of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.Semantic proximity Read ↗

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