| NE-Munroe-Meyer Institute of Genetics & Rehabilitation, UCEDD/LEND |
| Program Type | UCEDD |
Fiscal Year |
2016
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| Date of Publication | 02/2016 |
Author(s) | Eric Rush |
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| Genetics of Osteogenesis Imperfecta |
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| Brief Description |
Osteogenesis imperfecta (OI) is a disorder of bone fragility chiefly caused by mutations in the COL1A1 and COL1A2 genes that encode type I procollagen. Four types of osteogenesis imperfecta were originally described by Sillence in 1979, and are now used broadly as the Sillence Criteria.[1] The Nosology and Classification of Genetic Skeletal Disorders provides similar categorization in the 2010 revision.[2] Precise typing is often difficult. Severity ranges from mild forms to lethal forms in the perinatal period. In addition, new genes have been discovered which also cause brittle bones and as they are typically clinically indistinguishable are considered by most to be subtypes of osteogenesis imperfecta.[3 |
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| To Obtain Copies (URL or Email) |
http://emedicine.medscape.com/article/947588-overview |
