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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |
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