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Article

Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.

Chinese medical journal - 1 Aug 2010

Liu Feng-xia, Li Zhi-ling, Wei Zhen-ji, Meng Yan, Ren Cui-ai, Zhang Xu-de, Yu Meng-xue, Huang Shang-zhi

Abstract excerpt

BACKGROUND: Pseudoachondroplasia (PSACH) is an autosomal-dominant osteochondrodysplasia due to mutations in the gene encoding cartilage oligomeric matrix protein (COMP). Clinical diagnosis of PSACH is based primarily on family history, physical examination, and radiographic evaluation. There is evidence that decreased serum COMP concentration may serve as a diagnostic marker in PSACH. Here, we investigated the...

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Source

Identifiers

PMID: 20819661

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Genetic analysis and serum level of cartilage oligomeric matrix protein in patients with pseudoachondroplasia.PMID 20819661Read ↗

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

Decreased Plasma COMP and Increased Plasma CTX-II Levels in a Chinese Pseudoachondroplasia Family with Novel COMP Mutation.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 ↗

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

Circulating COMP is decreased in pseudoachondroplasia and multiple epiphyseal dysplasia patients carrying COMP mutations.Semantic proximity Read ↗

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

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

[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].Semantic proximity Read ↗

Functional characterization of a rare pathogenic variant c.875G > A, p.(Cys292Tyr) in COMP.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 ↗

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia.Semantic proximity Read ↗

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