| 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 | CCHS1, RET, CCHS3, PHOX2B
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| Molecular analysis of congenital central hypoventilation syndrome.
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| Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K.
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| Hum Genet 114(1):22-6. Epub 2003 Oct 18. 2003
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| 3 | CCHS1, RET
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| Mutations of the RET-GDNF signaling pathway in Ondine's curse.
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| Amiel J, Salomon R, AttiŽ T, Pelet A, Trang H, Mokhtari M, Gaultier C, Munnich A, Lyonnet S
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| Am J Hum Genet 62 : 715-717. 1998
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| 4 | CCHS1, RET
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| Congenital central hypoventilation syndrome : mutation analysis of the receptor tyrosine kinase ret.
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| Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, Chakravarti A.
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| Am J Med Genet 63 : 603-609. 1996
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