Article
Association between DSCAM polymorphisms and non-syndromic Hirschsprung disease in Chinese population.
BMC medical genetics - 13 Jul 2018
Wang Yong, He Qiuming, Zhang Ruizhong, Zhong Wei, Zhu Deli, Zhang Yan, Xia Huimin
Abstract excerpt
BACKGROUND: Hirschsprung disease (HSCR, aganglionic megacolon) is the most frequent genetic cause of congenital intestinal obstruction. DSCAM was identified as associated to HSCR with Down Syndrome (DS-HSCR) in European population,but failed to replicate in the non-syndromic HSCR patients. We aim to further investigate the relationship of DSCAM with non-sydromic HSCR in a South Chinese cohort, the largest...
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