| 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 | HSCR4, EDN3
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| A heterozygous frameshift mutation in the endothelin-3 (EDN-3) gene in isolated Hirschsprung's disease.
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| Svensson PJ, et al.
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| Pediatr Res 45(5 Pt 1):714-7. 1999
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| 3 | EDN3, HSCR4
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| Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.
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| Bidaud C, Salomon R, Van Camp G, Pelet A, Attie T, Eng C, Bonduelle M, Amiel J, Nihoul-Fekete C, Willems PJ, Munnich A, Lyonnet S.
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| Eur J Hum Genet 5(4):247-51. 1997
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| 4 | EDN3, HSCR4, WS4B
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| A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome).
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| Hofstra RM, Osinga J, Tan-Sindhunata G, Wu Y, Kamsteeg EJ, Stulp RP, van Ravenswaaij-Arts C, Majoor-Krakauer D, Angrist M, Chakravarti A, Meijers C, Buys CH.
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| Nat Genet 12 : 445-447. 1996
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| 5 | EDN3, HSCR4, WS4B
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| Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome).
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| Edery P, Attie T, Amiel J, Pelet A, Eng C, Hofstra RM, Martelli H, Bidaud C, Munnich A, Lyonnet S.
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| Nat Genet 12 : 442-444. 1996
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