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Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling
Osteogenesis imperfecta (OI) is a genetically heterogeneous monogenic disease characterized by decreased bone mass, bone fragility, and recurrent fractures. The phenotypic spectrum varies considerably ranging from prenatal fractures with lethal outcomes to mild forms with few fractures and normal st...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10198117/ https://www.ncbi.nlm.nih.gov/pubmed/37214584 http://dx.doi.org/10.12998/wjcc.v11.i12.2604 |