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Osteogenesis Imperfecta
Osteogenesis imperfecta is a common heritable connective tissue disorder. Nearly ninety percent are due to Type I collagen mutations. Type I-IV are autosomal dominant, and Type VI–XIII are autosomal recessive. They are Graded 1-5 based on severity. Genomic testing is done by collagen analysis from f...
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| Veröffentlicht in: | Indian J Endocrinol Metab |
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| Hauptverfasser: | , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Medknow Publications & Media Pvt Ltd
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5729682/ https://ncbi.nlm.nih.gov/pubmed/29285457 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/ijem.IJEM_220_17 |
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