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Article

[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].

Yi chuan = Hereditas - 1 May 2008

Wang Jing-Jing, Guo Yi-Bin

Abstract excerpt

Pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED) belong to the family of bone dysplasia disorders, which are both genetically and phenotypically heterogeneous. Both disorders are caused by mutations in the cartilage oligomeric matrix protein (COMP). COMP is a member of the thrombospondin (TSP) family, which plays an important role in skeletal development. In this paper, we mainly review the...

Topics

Animals
Cartilage Oligomeric Matrix Protein
DNA Mutational Analysis
Extracellular Matrix Proteins
Glycoproteins
Humans
Matrilin Proteins
Mutation
Osteochondrodysplasias

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 18487141
DOI: 10.3724/sp.j.1005.2008.00537

Genes

COMP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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[Progress of molecular genetic research on pseudoachon-droplasia and multiple epiphyseal dysplasia].PMID 18487141Read ↗

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.Semantic proximity Read ↗

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

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

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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 ↗

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 ↗

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

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

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

Diverse Mutations in the Gene for Cartilage Oligomeric Matrix Protein in the Pseudoachondroplasia–Multiple Epiphyseal Dysplasia Disease SpectrumSemantic proximity Read ↗

Genotype-phenotype correlations in PSACH/EDM1 patients with COMP gene variants: a comprehensive review of 830 cases.Semantic proximity Read ↗

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