Prenatal Cases Reflect the Complexity of the COL1A1/2 Associated Osteogenesis Imperfecta

Introduction: Osteogenesis imperfecta (OI) is a rare mendelian skeletal dysplasia with autosomal dominant or recessive inheritance pattern, and almost the most common primary osteoporosis in prenatal settings. The diversity of clinical presentation and genetic etiology in prenatal OI cases presents...

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Detalles Bibliográficos
Autores principales: Yang, Kai, Liu, Yan, Wu, Jue, Zhang, Jing, Hu, Hua-ying, Yan, You-sheng, Chen, Wen-qi, Yang, Shu-fa, Sun, Li-juan, Sun, Yong-qing, Wu, Qing-qing, Yin, Cheng-hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498730/
https://www.ncbi.nlm.nih.gov/pubmed/36140746
http://dx.doi.org/10.3390/genes13091578

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498730/
https://www.ncbi.nlm.nih.gov/pubmed/36140746
http://dx.doi.org/10.3390/genes13091578

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