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 B.-, Ada Hamosh, C. Meijers, C. H C M Buys

Research output: Contribution to journalArticle

Original languageEnglish (US)
Pages (from-to)304-308
Number of pages5
JournalAmerican Journal of Human Genetics
Issue number1
Publication statusPublished - 1999
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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