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Article

Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.

Journal of orthopaedic science : official journal of the Japanese Orthopaedic Association - 1 Sept 2017

Sakamoto Yuma, Yamamoto Takuaki, Kajino Yoshitomo, Kabata Tamon, Tsuchiya Hiroyuki, Miyake Noriko, Iwamoto Yukihide, Matsumoto Naomichi, Ikegawa Shiro

Abstract excerpt

No abstract is available from the source.

Topics

Adult
Arthralgia
Cartilage Oligomeric Matrix Protein
DNA Mutational Analysis
Diagnosis, Differential
Female
Genetic Predisposition to Disease
Hip Dislocation
Hip Joint
Humans
Osteoarthritis, Hip
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prognosis

Risk Assessment

Source

Identifiers

PMID: 26920793
DOI: 10.1016/j.jos.2016.01.010

Genes

COMP

Provenance

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

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Multiple epiphyseal dysplasia mimicking osteoarthritis due to acetabular dysplasia: A report of a familial case with a COMP mutation.PMID 26920793Read ↗

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A Novel COMP Mutation in a Chinese Family with Multiple Epiphyseal DysplasiaSemantic proximity Read ↗

Multiple Osteochondritis Dissecans as Main Manifestation of Multiple Epiphyseal Dysplasia Caused by a Novel Cartilage Oligomeric Matrix Protein Pathogenic Variant: A Clinical Report.Semantic proximity Read ↗

Autosomal dominant precocious osteoarthropathy due to a mutation of the cartilage oligomeric matrix protein (COMP) gene: further expansion of the phenotypic variations of COMP defects.Semantic proximity Read ↗

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study.Semantic proximity Read ↗

Description of Joint Alterations Observed in a Family Carrying p.Asn453Ser COMP Variant: Clinical Phenotypes, In Silico Prediction of Functional Impact on COMP Protein and Stability, and Review of the Literature.Semantic proximity Read ↗

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

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Review: clinical variability and genetic heterogeneity in multiple epiphyseal dysplasia.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 ↗

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

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