The scenario in humans is somewhat similar in that there are 4 studies to date demonstrating the involvement of haploinsufficiency in the causation of spina bifida. The Pax3 gene and the EphA4 gene act in concert with each other in causing spina bifida due to interstitial deletion at position 2q36 . Furthermore, in the same paper, Goumy et al.  suggested that a similar phenomenon occurs in the mouse when taking into account the spina bifida phenotype seen on the Splotch mouse that is affected by both Pax3  and EphA4 , albeit the link between the two in the mouse has yet to be ascertained. The hedgehog pathway has also been implicated in humans, where spina bifida occurs when Patched is perturbed when implicated with Gorlin syndrome . The third and fourth studies implicating human spina bifida involve haploinsufficiency in the region of 13q  and 7q .