(Q51546686)

6 April 2018

title

A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. (English)

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6 April 2018

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Seon-Yong Jeong

1

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6 April 2018

Bo-Young Kim

2

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6 April 2018

Hyon J Kim

3

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6 April 2018

Jeong-A Yang

4

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Ok-Hwa Kim

5

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6 April 2018

publication date

19 August 2010

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6 April 2018

Journal of Human Genetics

published in

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6 April 2018

volume

55

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issue

11

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6 April 2018

page(s)

764-766

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6 April 2018

Torg Syndrome Is Caused by Inactivating Mutations in MMP2 and Is Allelic to NAO and Winchester Syndrome

cites work

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

Torg-Winchester syndrome: lack of efficacy of pamidronate therapy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

A novel matrix metalloproteinase 2 (MMP2) terminal hemopexin domain mutation in a family with multicentric osteolysis with nodulosis and arthritis with cardiac defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

Mutation of the matrix metalloproteinase 2 gene (MMP2) causes a multicentric osteolysis and arthritis syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

Winchester syndrome caused by a homozygous mutation affecting the active site of matrix metalloproteinase 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

A novel homozygous MMP2 mutation in a family with Winchester syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

Structural basis of matrix metalloproteinases and tissue inhibitors of metalloproteinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

Mutations in MMP9 and MMP13 determine the mode of inheritance and the clinical spectrum of metaphyseal anadysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

Nosology and classification of genetic skeletal disorders: 2006 revision

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

7 January 2021

Torg osteolysis syndrome

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

7 January 2021

Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

7 January 2021

Clinical and radiographic findings in two brothers affected with a novel mutation in matrix metalloproteinase 2 gene

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

7 January 2021

Increased TIMP/MMP ratio in varicose veins: a possible explanation for extracellular matrix accumulation

1 reference

https://api.crossref.org/works/10.1038%2FJHG.2010.102

7 January 2021

Identifiers

DOI

10.1038/JHG.2010.102

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6 April 2018

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6 April 2018