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OR13-5 The Molecular Landscape of Osteogenesis Imperfecta in a Brazilian Tertiary Service Cohort
Osteogenesis imperfecta (OI) is clinically and genetically heterogeneous. Defects in collagen type 1 are reportedly the main cause of OI (85-90%), but most available data has arisen from developed countries. Massively parallel sequencing (MPS) technologies now allow for systematic and comprehensive...
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| Publicado no: | J Endocr Soc |
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| Principais autores: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Endocrine Society
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6554814/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2019-OR13-5 |
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