Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease.
Proceedings Of The National Academy Of Sciences Of The United States Of America
de Pontual, Loïc L; Zaghloul, Norann A NA; Thomas, Sophie S; Davis, Erica E EE; McGaughey, David M DM; Dollfus, Hélène H; Baumann, Clarisse C; Bessling, Seneca L SL; Babarit, Candice C; Pelet, Anna A; Gascue, Cecilia C; Beales, Philip P; Munnich, Arnold A; Lyonnet, Stanislas S; Etchevers, Heather H; Attie-Bitach, Tania T; Badano, Jose L JL; McCallion, Andrew S AS; Katsanis, Nicholas N; Amiel, Jeanne J