AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis

@inproceedings{Li2016AKAP2IA,
  title={AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis},
  author={Wei Li and Yawei Li and Lusi Zhang and Hui Guo and Di Tian and Ying Li and Yu Peng and Yu Zheng and Yuliang Dai and Kun Xia and Xinqiang Lan and Bing Wang and Zhengmao Hu},
  booktitle={Journal of medical genetics},
  year={2016}
}
BACKGROUND Adolescent idiopathic scoliosis exhibits high heritability and is one of the most common spinal deformities found in adolescent populations. However, little is known about the disease-causing genes in families with adolescent idiopathic scoliosis exhibiting Mendelian inheritance. OBJECTIVE The aim of this study was to identify the causative gene in a family with adolescent idiopathic scoliosis. METHODS Whole-exome sequencing was performed on this family to identify the candidate… CONTINUE READING
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