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| Hirschsprung disease, associated syndromes and genetics: a review.
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| Amiel J, Sproat-Emison E, Garcia-Barcelo M, Lantieri F, Burzynski G, Borrego S, Pelet A, Arnold S, Miao X, Griseri P, Brooks AS, Antinolo G, de Pontual L, Clement-Ziza M, Munnich A, Kashuk C, West K, Wong KK, Lyonnet S, Chakravarti A, Tam PK, Ceccherini I, Hofstra RM, Fernandez R; Hirschsprung Disease Consortium.
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| J Med Genet 45(1):1-14. Epub 2007 Oct 26. Review. 2008
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| 2 | NAO, EDS7C, HSCR5, HYP1, MADYS2, PYCD, PALS, ALPS2, LGMD2A, CASP8D, CYLD
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| The genetic and molecular bases of monogenic disorders affecting proteolytic systems.
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| Richard I.
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| J Med Genet 42(7):529-39. 2005
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| 3 | ECE1, HSCR5
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| A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction.
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| Hofstra RM, Valdenaire O, Arch E, Osinga J, Kroes H, Loffler BM, Hamosh A, Meijers C, Buys CH.
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| Am J Hum Genet 64 : 304-308. 1999
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