Metaphyseal chondrodysplasia Schmid type

Common Name(s)

Metaphyseal chondrodysplasia Schmid type

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Metaphyseal chondrodysplasia Schmid type" for support, advocacy or research.

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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 "Metaphyseal chondrodysplasia Schmid type" returned 9 free, full-text research articles on human participants. First 3 results:

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains.
 

Author(s): Outi Mäkitie, Miki Susic, William G Cole

Journal: J. Orthop. Res.. 2010 Nov;28(11):1497-501.

 

Both dominant-negative and haploinsufficiency effects have been proposed in the pathogenesis of metaphyseal chondrodysplasia type Schmid (MCDS) due to nonsense and frame-shift mutations of COL10A1. This study examines these alternative effects. A proband with typical early-onset MCDS ...

Last Updated: 31 Dec 1969

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Schmid type metaphyseal chondrodysplasia.
 

Author(s): Sankalp Gokhale, Sunil Mehta

Journal: Indian Pediatr. 2005 Dec;42(12):1252.

 

Last Updated: 31 Dec 1969

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Equal expression of typ X collagen mRNA fom mutant and wild type COL10A1 alleles in growth plate cartilage from a patient with metaphyseal chondrodysplasia type Schmid.
 

Author(s): C A Gregory, B Zabel, M E Grant, R P Boot-Handford, G A Wallis

Journal: J. Med. Genet.. 2000 Aug;37(8):627-9.

 

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Metaphyseal chondrodysplasia Schmid type" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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