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Article

A novel COMP mutation in a pseudoachondroplasia family of Chinese origin.

BMC medical genetics - 21 May 2011

Dai Li, Xie Liang, Wang Yanping, Mao Meng, Li Nana, Zhu Jun, Kim Christopher, Zhang Yawei

Abstract excerpt

BACKGROUND: Pseudoachondroplasia (PSACH) is caused exclusively by mutations in the gene for cartilage oligomeric matrix protein (COMP). Only a small number of studies have documented the clinical phenotype and genetic basis in Chinese PSACH patients. CASE PRESENTATION: We investigated a four-generation PSACH pedigree of Chinese Han origin. Two patients and two unaffected individuals were recruited for clinical...

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Source

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Identifiers

PMID: 21599986
DOI: 10.1186/1471-2350-12-72
PMCID: PMC3119180

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.

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A novel COMP mutation in a Chinese patient with pseudoachondroplasia.Semantic proximity Read ↗

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

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