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COL2A1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. It is one of a spectrum of skeletal disorders caused by mutations in the
Last updated: 5/20/2013
- Kniest dysplasia. Genetics Home Reference (GHR). 2008; http://ghr.nlm.nih.gov/condition/kniest-dysplasia. Accessed 5/20/2013.
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- Genetics Home Reference (GHR) contains information on Kniest dysplasia. This website is maintained by the National Library of Medicine.
In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Kniest dysplasia. Click on the link to view a sample search on this topic.