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