While our functional studies focused on genes uniquely associated with variation in skull BMD, there are plenty of genes implicated in craniosynostosis (e.g., EN1, RUNX2, SOX6, BMP2, JAG1, LRP5, IDUA30,44,47,48) across the whole set of identified BMD loci (Supplementary Table 1). The gene discussed is EN1; the disease is craniosynostosis.