SHH and holoprosencephaly: We tested this in SBE2, a regulatory element that controls SHH expression in the developing forebrain, using a point mutation (C>T) identified in a patient with holoprosencephaly and shown to abrogate the activity of SBE2 in the rostral hypothalamus of the mouse (Figure 5; Bhatia et al., 2015; Jeong et al., 2008).