Article
Sporadic Hirschsprung Disease: Mutational Spectrum and Novel Candidate Genes Revealed by Next-generation Sequencing.
Scientific reports - 1 Nov 2017
Zhang Zhen, Li Qi, Diao Mei, Liu Na, Cheng Wei, Xiao Ping, Zou Jizhen, Su Lin, Yu Kaihui, Wu Jian, Li Long, Jiang Qian
Abstract excerpt
Hirschsprung disease (HSCR) is a common cause of functional colonic obstruction in children. The currently available genetic testing is often inadequate as it mainly focuses on RET and several other genes, accounting for only 15-20% of cases. To identify novel, potentially pathogenic variants, we isolated a panel of genes from a whole-exome sequencing study and from the published mouse aganglionosis phenotypes,...
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