Genetic analysis in Japanese patients with osteogenesis imperfecta: Genotype and phenotype spectra in 96 probands
Abstract Background Osteogenesis imperfecta (OI) is a rare connective‐tissue disorder characterized by bone fragility. Approximately 90% of all OI cases are caused by variants in COL1A1 or COL1A2. Additionally, IFITM5 variants are responsible for the unique OI type 5. We previously analyzed COL1A1/2...
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| Principais autores: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wiley
2021-06-01
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| coleção: | Molecular Genetics & Genomic Medicine |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1002/mgg3.1675 |
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