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SUN-LB19 Novel Homozygous Mutation in BMP1 Causing Osteogenesis Imperfecta
Background: Osteogenesis imperfecta (OI) is characterized by bone fragility and increased fracture susceptibility. Most mutations occur in COL1A1 and COL1A2 genes. Rarely, mutations in BMP1 have been reported in association with OI type XIII. Disease severity is generally more severe when the mutati...
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| Publicado no: | J Endocr Soc |
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| Main Authors: | , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Oxford University Press
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7209160/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.2020 |
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