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An unusual presentation of osteogenesis imperfecta type I
Osteogenesis imperfecta (OI) is a rare inherited disorder with a broad spectrum of clinical and genetic variability. The genetic diversity involves, in the majority of the cases, mutations in one of the genes that encodes the type 1 collagen protein (COL1 A1 and COL1 A2), but it is not a requirement...
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| Main Authors: | , , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Dove Medical Press
2011
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3658233/ https://ncbi.nlm.nih.gov/pubmed/23754901 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/IMCRJ.S17929 |
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