Epiphyseal Dysplasia Multiple 3

Common Name(s)

Epiphyseal Dysplasia Multiple 3

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Epiphyseal Dysplasia Multiple 3" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Epiphyseal Dysplasia Multiple 3" returned 3 free, full-text research articles on human participants. First 3 results:

Multiple epiphyseal dysplasia mutations in MATN3 cause misfolding of the A-domain and prevent secretion of mutant matrilin-3.
 

Author(s): Sally L Cotterill, Gail C Jackson, Matthew P Leighton, Raimund Wagener, Outi Mäkitie, William G Cole, Michael D Briggs

Journal: Hum. Mutat.. 2005 Dec;26(6):557-65.

 

Multiple epiphyseal dysplasia (MED) is a relatively common skeletal dysplasia that can present in childhood with a variable phenotype of short stature and pain and stiffness in the large joints, and often progresses to early-onset osteoarthritis in adulthood. Mutations in the matrilin-3 ...

Last Updated: 21 Nov 2005

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Missense mutations in the beta strands of the single A-domain of matrilin-3 result in multiple epiphyseal dysplasia.
 

Author(s): G C Jackson, F S Barker, E Jakkula, M Czarny-Ratajczak, O Mäkitie, W G Cole, M J Wright, S F Smithson, M Suri, P Rogala, G R Mortier, C Baldock, A Wallace, R Elles, L Ala-Kokko, M D Briggs

Journal: J. Med. Genet.. 2004 Jan;41(1):52-9.

 

Last Updated: 19 Jan 2004

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A mutation in the alpha 3 chain of type IX collagen causes autosomal dominant multiple epiphyseal dysplasia with mild myopathy.
 

Author(s): C G Bönnemann, G F Cox, F Shapiro, J J Wu, C A Feener, T G Thompson, D C Anthony, D R Eyre, B T Darras, L M Kunkel

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2000 Feb;97(3):1212-7.

 

Multiple epiphyseal dysplasia (MED) is a degenerative cartilage condition shown in some cases to be caused by mutations in genes encoding cartilage oligomeric matrix protein or type IX collagen. We studied a family with autosomal dominant MED affecting predominantly the knee joints ...

Last Updated: 2 Mar 2000

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Epiphyseal Dysplasia Multiple 3" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.