| 1 | CCHS1, CCHS3, CHH, GOSHS, HSCR1, HSCR2, HSCR3, HSCR4, HSCR5, MOWS, PCWH, WS4B, WS4A
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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 | ABCD, EDNRB, WS4A
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| ABCD syndrome is caused by a homozygous mutation in the EDNRB gene.
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| Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM.
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| Am J Med Genet 108(3):223-5. 2002
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| 3 | EDNRB, HSCR2, WS4A
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| Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients.
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| Abe Y, Sakurai T, Yamada T, Nakamura T, Yanagisawa M, Goto K.
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| Biochem Biophys Res Commun 275(2):524-31. 2000
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| 4 | WS1, WS2A, WS2B, WS3, WS4A, WS4B, WS4C
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| Waardenburg syndrome.
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| Read AP, et al.
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| J Med Genet 34 : 656-665. 1997
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| 5 | HSCR2, HSCR3, WS4A
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| Chromosome 13q deletion with Waardenburg syndrome : further evidence for a gene involved in neural crest function on 13q.
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| Van Camp G, et al.
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| J Med Genet 32 : 531-536. 1995
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