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Article

A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.

Genetics and molecular research : GMR - 8 Sept 2010

Elliott A M, Bocangel P, Reed M H, Greenberg C R

Abstract excerpt

Pseudoachondroplasia (PSACH) is an autosomal dominant skeletal dysplasia, generally identified clinically at two years of age due to decreased linear growth and a waddling gait. Radiographic features include small and irregular epiphyses, with metaphyseal changes of the long bones and characteris...

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Source

Identifiers

PMID: 20830670
DOI: 10.4238/vol9-3gmr897

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20830670-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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A novel COMP mutation in an Inuit patient with pseudoachondroplasia and severe short stature.PMID 20830670Read ↗

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

Novel and recurrent COMP (cartilage oligomeric matrix protein) mutations in pseudoachondroplasia and multiple epiphyseal dysplasia.Semantic proximity Read ↗

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

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

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

[Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].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 two novel mutations in the COMP gene in six families with pseudoachondroplasia.Semantic proximity Read ↗

A disorder resembling pseudoachondroplasia but without COMP mutation.Semantic proximity Read ↗

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

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

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