Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments

BACKGROUND: Absence of the anterior (ACL) or posterior cruciate ligament (PCL) are rare congenital malformations that result in knee joint instability, with a prevalence of 1.7 per 100,000 live births and can be associated with other lower-limb abnormalities such as ACL agnesia and absence of the me...

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Detalles Bibliográficos
Autores principales: Liu, Yichuan, Li, Yun, March, Michael E., Kenny, Nguyen, Xu, Kexiang, Wang, Fengxiang, Guo, Yiran, Keating, Brendan, Glessner, Joseph, Li, Jiankang, Ganley, Theodore J., Zhang, Jianguo, Deardorff, Matthew A., Xu, Xun, Hakonarson, Hakon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4642759/
https://www.ncbi.nlm.nih.gov/pubmed/26561035
http://dx.doi.org/10.1186/s40246-015-0053-z

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