Insufficient gene expression and lost gene regulatory network may underlie the mechanism of Hirschsprung Disease in 5p–syndrome by Yizhao Luan, Peng Li, Yuanyuan Luo, Hong Zhang, Xiaochun Zhu, Yan Zhang, Aihua Yin, Qiang Wu, Chengwei Chai

“…However, the genetic basis of many specific phenotypes, including the co-occurrence of Hirschsprung Disease (HSCR), have yet been clarified. Here, we conducted a study on two patients with CDC and HSCR using whole genome sequencing (WGS) analyses. …”
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