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Article

A disorder resembling pseudoachondroplasia but without COMP mutation.

American journal of medical genetics. Part A - 1 Jan 2005

Spranger J W, Zabel B, Kennedy J, Jackson G, Briggs M

Abstract excerpt

Pseudoachondroplasia (PA) is an autosomal dominant skeletal dysplasia characterized by disproportionate short stature, generalized ligamentous laxity, irregular epi-metaphyseal ossification, and vertebral anomalies that regress with age. It usually manifests in the second year of life or later. The clinically and radiographically variable disorder is caused by mutations in the COMP gene. Parental gonadal...

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Identifiers

PMID: 15551305
DOI: 10.1002/ajmg.a.30350

Genes

COMP

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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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A disorder resembling pseudoachondroplasia but without COMP mutation.PMID 15551305Read ↗

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

Age Dependent Progression of Multiple Epiphyseal Dysplasia and Pseudoachondroplasia Due to Heterozygous Mutations in COMP Gene.Semantic proximity Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations.Semantic proximity Read ↗

A novel COMP mutation in a Chinese patient with 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 ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: New etiologic developments.Semantic proximity Read ↗

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

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

Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.Semantic proximity Read ↗

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

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

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

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