Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability.
Jiang Q, Arnold S, Heanue T, Kilambi KP, Doan B, Kapoor A, Ling AY, Sosa MX, Guy M, Jiang Q, Burzynski G, West K, Bessling S, Griseri P, Amiel J, Fernandez RM, Verheij JB, Hofstra RM, Borrego S, Lyonnet S, Ceccherini I, Gray JJ, Pachnis V, McCallion AS, Chakravarti A.
Jiang Q, et al. Among authors: doan b.
Am J Hum Genet. 2015 Apr 2;96(4):581-96. doi: 10.1016/j.ajhg.2015.02.014.
Am J Hum Genet. 2015.
PMID: 25839327
Free PMC article.