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Hypermineralization and high osteocyte lacunar density in osteogenesis imperfecta type V bone indicate exuberant primary bone formation
In contrast to “classical” forms of Osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function mutation in the IFITM5 gene, encoding the interferon-induced transmembrane protein 5, or bone-restricted ifitm-like protein (BRIL). Its phenotype...
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| Pubblicato in: | J Bone Miner Res |
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| Autori principali: | , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2017
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5555797/ https://ncbi.nlm.nih.gov/pubmed/28548288 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jbmr.3180 |
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