High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability

@inproceedings{Gong2012HighPO,
  title={High Proportion of 22q13 Deletions and SHANK3 Mutations in Chinese Patients with Intellectual Disability},
  author={Xiaohong Gong and Yuwu Jiang and Xin Zhang and Yu An and Jun Zhang and Ye Wu and Jingmin Wang and Yangfei Sun and Yanyan Liu and Xuewu Gao and Yiping Shen and Xi-ru Wu and Zilong Qiu and Li Jin and Bai-Lin Wu and Hongyan Wang},
  booktitle={PloS one},
  year={2012}
}
Intellectual disability (ID) is a heterogeneous disorder caused by chromosomal abnormalities, monogenic factors and environmental factors. 22q13 deletion syndrome is a genetic disorder characterized by severe ID. Although the frequency of 22q13 deletions in ID is unclear, it is believed to be largely underestimated. To address this issue, we used Affymetrix Human SNP 6.0 array to detect the 22q13 deletions in 234 Chinese unexplained ID patients and 103 controls. After the Quality Control (QC… CONTINUE READING
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