Article
A genome-wide association study identifies potential susceptibility loci for Hirschsprung disease.
PloS one - 1 Jan 2014
Kim Jeong-Hyun, Cheong Hyun Sub, Sul Jae Hoon, Seo Jeong-Meen, Kim Dae-Yeon, Oh Jung-Tak, Park Kwi-Won, Kim Hyun-Young, Jung Soo-Min, Jung Kyuwhan, Cho Min Jeng, Bae Joon Seol, Shin Hyoung Doo
Abstract excerpt
Hirschsprung disease (HSCR) is a congenital and heterogeneous disorder characterized by the absence of intramural nervous plexuses along variable lengths of the hindgut. Although RET is a well-established risk factor, a recent genome-wide association study (GWAS) of HSCR has identified NRG1 as an additional susceptibility locus. To discover additional risk loci, we performed a GWAS of 123 sporadic HSCR patients...
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