Functional loss of Semaphorin 3C/ Semaphorin 3D and epistatic interaction with RET are critical to Hirschsprung disease liability.

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Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Soca MX, Guy M, Jiang Q, Burzynski G, Wesy K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JBGM, Hofstra RMW, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A: Functional loss of Semaphorin 3C/ Semaphorin 3D and epistatic interaction with RET are critical to Hirschsprung disease liability. Amer J Hum Genet 96:581-596, 2015. PMID 25839327. PMC4385176.