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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...
Wedi'i Gadw mewn:
| Cyhoeddwyd yn: | Mol Genet Genomic Med |
|---|---|
| Prif Awduron: | , , , |
| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
John Wiley and Sons Inc.
2021
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| Pynciau: | |
| Mynediad Ar-lein: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8222833/ https://ncbi.nlm.nih.gov/pubmed/33818922 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1676 |
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