Article

A Novel COMP Mutation in a Chinese Family with Multiple Epiphyseal Dysplasia

2020-04-08

Abstract excerpt

<title>Abstract</title> <p>Background: Multiple epiphyseal dysplasia (MED) is a skeletal disorder characterized by delayed and irregular ossification of the epiphyses and early-onset osteoarthritis. At least 66% of the reported autosomal dominant MED (AD-MED) cases are caused by COMP mutations. <h4>Methods:</h4> We recruited a four-generation Chinese family with early-onset hip osteoarthritis, flatfoot, brachydac...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 412931f3-1dfa-5267-a885-f3d220a4314d
DOI: 10.21203/rs.2.24293/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

A Novel COMP Mutation in a Chinese Family with Multiple Epiphyseal DysplasiaDOI 10.21203/rs.2.24293/v2Read

A novel COMP mutation in a Chinese family with multiple epiphyseal dysplasia.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

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

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.Semantic proximity Read

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

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

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

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

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

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

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

From Desbuquois Dysplasia to Multiple Epiphyseal Dysplasia: The Clinical Impact of a CANT1 Variant Across Five Unrelated Families.Semantic proximity Read