A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

R M Hofstra ,  O Valdenaire ,  E Arch ,  J Osinga ,  H Kroes ,  B M Löffler ,  A Hamosh ,  C Meijers ,  C H Buys