Article
Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.
Gastroenterology - 1 Jul 2018
Sribudiani Yunia, Chauhan Rajendra K, Alves Maria M, Petrova Lucy, Brosens Erwin, Harrison Colin, Wabbersen Tara, de Graaf Bianca M, Rügenbrink Tim, Burzynski Grzegorz, Brouwer Rutger W W, van IJcken Wilfred F J, Maas Saskia M, de Klein Annelies, Osinga Jan, Eggen Bart J L, Burns Alan J, Brooks Alice S, Shepherd Iain T, Hofstra Robert M W
Abstract excerpt
BACKGROUND & AIMS: Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multigenerational family with history of HSCR in a linkage region previously...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.