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Article

COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.

International journal of molecular medicine - 1 Dec 2010

Jung Woon-Won, Balce Gracia Cielo, Cho Jae-Woo, Jung Sung-Chul, Hong Suk-Joo, Song Hae-Ryong

Abstract excerpt

While pseudoachondroplasia (PSACH) is almost exclusively caused by cartilage oligomeric matrix protein (COMP) mutations, many patients identified with the PSACH phenotype do not have this mutation, suggesting gene and locus heterogeneity. In order to further characterize this entity, we studied 3...

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Source

Identifiers

PMID: 21042783
DOI: 10.3892/ijmm_00000538

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21042783-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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COMP and Col9A3 mutations and their relationship to the pseudoachondroplasia phenotype.PMID 21042783Read ↗

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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 ↗

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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 ↗

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

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