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

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 Jan;64(1):304-8. doi: 10.1086/302184.
R M Hofstra,  O Valdenaire,  E Arch,  J Osinga,  H Kroes,  B M Löffler,  A Hamosh,  C Meijers,  C H Buys
PMID: 9915973 DOI: 10.1086/302184
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