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Identification of Genes Associated with Hirschsprung Disease, Based on Whole-genome Sequence Analysis, and Potential Effects on Enteric Nervous System Development.

著者 Tang CS , Li P , Lai FP , Fu AX , Lau ST , So MT , Lui KN , Li Z , Zhuang X , Yu M , Liu X , Ngo ND , Miao X , Zhang X , Yi B , Tang S , Sun X , Zhang F , Liu H , Liu Q , Zhang R , Wang H , Huang L , Dong X , Tou J , Cheah KS , Yang W , Yuan Z , Yip KY ,
Gastroenterology.2018 Sep 11 ; ():.
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Hirschsprung disease, or congenital aganglionosis, is believed to be oligogenic-caused by multiple genetic factors. We performed whole-genome sequence analyses of patients with Hirschsprung disease to identify genetic factors that contribute to disease development and analyzed the functional effects of these variants.
PMID: 30217742 [PubMed - as supplied by publisher]
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