Lupiáñez and colleagues described how heterozygous deletions on chromosome 2q35-36 that alter the higher-order chromatin organization of the WNT6/IHH/EPHA4/PAX3 locus can allow interactions between a cluster of limb enhancers, normally associated with EPHA4, and the PAX3 promoter region, leading to an ectopic limb expression of PAX3 and causing brachydactyly (Lupiáñez et al. 2015). The gene discussed is PAX3; the disease is brachydactyly.