Osteogenesis imperfecta type 7

Common Name(s)

Osteogenesis imperfecta type 7

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by {1:Barnes et al., 2006}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta type 7" for support, advocacy or research.

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Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

Last Updated: 15 Feb 2013

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General Support Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Osteogenesis imperfecta type 7" for support, advocacy or research.

Logo
Children's Brittle Bone Foundation

The mission of the Children's Brittle Bone Foundation is to provide funds for research into the causes, diagnosis, treatment, prevention, and eventual cure for Osteogenesis Imperfecta (OI), while supporting programs which improve the quality of life for people afflicted with OI, promote awareness and educate the public.

http://www.cbbf.org

Last Updated: 15 Feb 2013

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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 "Osteogenesis imperfecta type 7" returned 1 free, full-text research articles on human participants. First 3 results:

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.
 

Author(s): U Schwarze, B J Starman, P H Byers

Journal: Am. J. Hum. Genet.. 1999 Aug;65(2):336-44.

 

Most splice-site mutations lead to a limited array of products, including exon skipping, use of cryptic splice-acceptor or -donor sites, and intron inclusion. At the intron 8 splice-donor site of the COL1A1 gene, we identified a G+1-->A transition that resulted in the production of ...

Last Updated: 20 Aug 1999

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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 "Osteogenesis imperfecta type 7" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.