Article
Whole exome sequencing coupled with unbiased functional analysis reveals new Hirschsprung disease genes.
Genome biology - 8 Mar 2017
Gui Hongsheng, Schriemer Duco, Cheng William W, Chauhan Rajendra K, Antiňolo Guillermo, Berrios Courtney, Bleda Marta, Brooks Alice S, Brouwer Rutger W W, Burns Alan J, Cherny Stacey S, Dopazo Joaquin, Eggen Bart J L, Griseri Paola, Jalloh Binta, Le Thuy-Linh, Lui Vincent C H, Luzón-Toro Berta, Matera Ivana, Ngan Elly S W, Pelet Anna, Ruiz-Ferrer Macarena, Sham Pak C, Shepherd Iain T, So Man-Ting, Sribudiani Yunia, Tang Clara S M, van den Hout Mirjam C G N, van der Linde Herma C, van Ham Tjakko J, van IJcken Wilfred F J, Verheij Joke B G M, Amiel Jeanne, Borrego Salud, Ceccherini Isabella, Chakravarti Aravinda, Lyonnet Stanislas, Tam Paul K H, Garcia-Barceló Maria-Mercè, Hofstra Robert M W
Abstract excerpt
BACKGROUND: Hirschsprung disease (HSCR), which is congenital obstruction of the bowel, results from a failure of enteric nervous system (ENS) progenitors to migrate, proliferate, differentiate, or survive within the distal intestine. Previous studies that have searched for genes underlying HSCR have focused on ENS-related pathways and genes not fitting the current knowledge have thus often been ignored. We...
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