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...
Main Authors: | , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Institute for Genetic Engineering and Biotechnology, University of Sarajevo
2022
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Subjects: | |
Online Access: | https://repository.londonmet.ac.uk/7794/1/Published%2023062022.pdf |