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Expanding the Clinical Spectrum of Osteogenesis Imperfecta Type V: 13 Additional Patients and Review
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility and is characterized by clinical and genetic heterogeneity. Previous studies showed that the same mutation (c.−14C> T) of the IFITM5 gene is responsible for autosomal dominant OI type V. Howeve...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2019
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6581704/ https://www.ncbi.nlm.nih.gov/pubmed/31244780 http://dx.doi.org/10.3389/fendo.2019.00375 |