Multiple, independent, common variants at RET, SEMA3 and NRG1 gut enhancers specify Hirschsprung disease risk in European ancestry subjects.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of pediatric surgery"
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
Cumulative Risk Impact of RET, SEMA3, and NRG1 Polymorphisms Associated With Hirschsprung Disease in Han Chinese
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Pediatric Gastroenterology and Nutrition"
DOI: 10.1097/mpg.0000000000001263
Abstract: Objectives: Hirschsprung disease (HSCR) is a congenital aganglionosis of myenteric and submucosal plexuses affecting a variable length of the intestine. The incidence of HSCR is approximately 1 of 5000 live births; however, the risk shows… read more here.
Keywords: risk; sema3 nrg1; hirschsprung disease; disease ... See more keywords