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Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V
Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.−14C>T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Con...
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| Pubblicato in: | Eur J Med Genet |
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| Autori principali: | , , , , , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
2018
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6594916/ https://ncbi.nlm.nih.gov/pubmed/30593885 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2018.12.011 |
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