1999
  1. Hofstra,R.M., Valdenaire,O., Arch,E., Osinga,J., Kroes,H., Loffler,B.M., Hamosh,A., Meijers,C. & Buys,C.H.
    A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
    Am J Hum Genet (1999) 64, 304-308. PubMed  Europe PubMed DOI  K