Implication of a de novo Variant in ciliary rootlet coiledcoil (CROCC) with assimilation of atlas (AOA)

Assimilation of atlas is a rare skeletal malformation causing nerve compression with high risk of fatal. However, the genetic etiology of assimilation of atlas AOA is currently lacking. In this paper, the whole-exome sequencing (WES) analysis was employed to study a Chinese family having a sporadic...

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Bibliographic Details
Main Authors: Tong, Huaiyu, Guo, Chongye, Liang, Liang, Mi, Hua, Li, Meng, Yin, Yiheng, Shang, Lijun, Mi, Shuangli, Yu, Xinguang
Format: Article
Language:English
Published: Institute for Genetic Engineering and Biotechnology, University of Sarajevo 2022
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Online Access:https://repository.londonmet.ac.uk/7794/1/Published%2023062022.pdf