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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...

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Detalles Bibliográficos
Autores principales: Panzaru, Monica-Cristina, Florea, Andreea, Caba, Lavinia, Gorduza, Eusebiu Vlad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
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