A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE- 1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction [6]

R. M.W. Hofstra, O. Valdenaire, E. Arch, J. Osinga, H. Kroes, M. Loffler, A. Hamosh, C. Meijers, C. H.C.M. Buys

Research output: Contribution to journalLetterpeer-review

126 Scopus citations
Original languageEnglish (US)
Pages (from-to)304-307
Number of pages4
JournalAmerican journal of human genetics
Issue number1
StatePublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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