Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.
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DOI: 10.1016/j.jpedsurg.2021.04.010
Abstract: PURPOSE Hirschsprung disease (HSCR) is a developmental disorder of the enteric nervous system (ENS) characterized by congenital aganglionosis arising from coding variants in ENS genes causing partial or total loss-of-function. Low-penetrance, common, noncoding variants at… read more here.
Keywords: risk; european ancestry; sema3 nrg1; hirschsprung disease ... See more keywords