Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study. (Q31154022)

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10 March 2020

title

Comparison of orthopaedic manifestations of multiple epiphyseal dysplasia caused by MATN3 versus COMP mutations: a case control study (English)

1 reference

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multiple epiphyseal dysplasia

10 March 2020

main subject

1 reference

1

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10 March 2020

Tae-Joon Cho

14

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10 March 2020

2

Hae-Ryong Song

1 reference

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10 March 2020

8

Chang-Wug Oh

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10 March 2020

author name string

Hyun Woo Kim

3

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10 March 2020

Won Joon Yoo

4

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10 March 2020

Jong Sup Shim

5

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10 March 2020

Chin Youb Chung

6

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10 March 2020

Moon Seok Park

7

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10 March 2020

Changhoon Jeong

9

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10 March 2020

Ok-Hwa Kim

11

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10 March 2020

Sung Sup Park

12

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10 March 2020

In Ho Choi

13

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10 March 2020

Kwang Soon Song

10

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10 March 2020

publication date

15 March 2014

1 reference

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BMC Musculoskeletal Disorders

10 March 2020

published in

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10 March 2020

volume

15

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10 March 2020

page(s)

84

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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

10 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Multiple epiphyseal dysplasia: clinical and radiographic features, differential diagnosis and molecular basis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Intrafamilial phenotypic diversity in multiple epiphyseal dysplasia associated with a COL9A2 mutation (EDM2)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Novel and recurrent mutations clustered in the von Willebrand factor A domain of MATN3 in multiple epiphyseal dysplasia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Clinical phenotype and molecular diagnosis of multiple epiphyseal dysplasia with relative hip sparing during childhood (EDM2)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Pseudoachondroplasia and multiple epiphyseal dysplasia: mutation review, molecular interactions, and genotype to phenotype correlations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3984757

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-84

Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-84

Recessive multiple epiphyseal dysplasia (rMED): phenotype delineation in eighteen homozygotes for DTDST mutation R279W.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-84

Clinical and radiographic findings in multiple epiphyseal dysplasia caused by MATN3 mutations: description of 12 patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-84

Clinical and radiographic features of multiple epiphyseal dysplasia not linked to the COMP or type IX collagen genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-84

Hemiepiphyseal stapling for angular deformity correction around the knee joint in children with multiple epiphyseal dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-84

Angular deformity correction by asymmetrical physeal suppression in growing children: stapling versus percutaneous transphyseal screw.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2474-15-84

Multiple epiphyseal dysplasia: radiographic abnormalities correlated with genotype

21 January 2018

1 reference

12 December 2020

Familial multiple epiphyseal dysplasia due to a matrilin-3 mutation: further delineation of the phenotype including 40 years follow-up

1 reference

12 December 2020

The natural history of Legg-Calvé-Perthes disease

1 reference

12 December 2020

Acetabular dysplasia in the adult

1 reference

12 December 2020

The long-term prognosis of unilateral Perthes' disease

1 reference

12 December 2020

Avascular necrosis of the hip in multiple epiphyseal dysplasia

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2474-15-84

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24629099%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

10 March 2020

1 reference

9 September 2019

https://scigraph.springernature.com/pub.10.1186/1471-2474-15-84

1 reference

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10 March 2020

PubMed publication ID

24629099

1 reference

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