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Two novel compound heterozygous BMP1 mutations in a patient with osteogenesis imperfecta: a case report
BACKGROUND: Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia leading to a susceptibility to fractures. OI can be caused by mutations in several genes including BMP1. It encodes two isoforms, bone morphogenetic protein 1 (BMP1) and mammalian tolloid (mTLD); both have proteolytic acti...
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| Publicat a: | BMC Med Genet |
|---|---|
| Autors principals: | , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2017
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5336636/ https://ncbi.nlm.nih.gov/pubmed/28257626 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0384-9 |
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