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Novel mutations in BMP1 result in a patient with autosomal recessive osteogenesis imperfecta
BACKGROUND: Osteogenesis imperfecta (OI) is a rare heritable bone disorder that is characterised by increased bone fragility and recurrent fractures. To date, only 19 OI patients have been reported, as caused by BMP1 gene mutations, worldwide. Here, we report a patient with a BMP1 gene mutation to e...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222833/ https://www.ncbi.nlm.nih.gov/pubmed/33818922 http://dx.doi.org/10.1002/mgg3.1676 |