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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

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

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

Genes

COMP

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

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

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.Semantic proximity Read ↗

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 ↗

[Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease].Semantic proximity Read ↗

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

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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