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Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment
Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most re...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BlackWell Publishing Ltd
2014
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4314691/ https://www.ncbi.nlm.nih.gov/pubmed/24715559 http://dx.doi.org/10.1002/ajmg.a.36545 |