A de novo Variant in CROCC identified in a Chinese family implies the potential association with Atlanto-occipital Fusion (AOF)

Poster presentation for the Physoc 2021 annual conference. Atlanto-occipital fusion (AOF) is a rare skeletal malformation causing nerve compression with high risk of fatal. Its genetic information is currently lacking. Through whole-exome sequencing (WES) on a Chinese family having a sporadic proban...

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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: Conference or Workshop Item
Language:English
Published: The Physiological Society 2021
Subjects:
Online Access:https://repository.londonmet.ac.uk/7795/1/2021%20Physoc%20Poster-14072021.pdf