Mutations in the coding region for the latency-associated peptide (LAP) in the transforming growth factor beta 1 (TGFB1) gene cause CED through gain-of-function effects.[8,9] Normally, TGF-β1 is separated from LAP and released as an activated form at the sites of bone resorption to stimulate bone formation.[9] However, in CED, mutations in the LAP cause premature dissociation of TGF-β1 causing distortion of the resorption-induced TGF-β1 gradients. Here, TGFB1 is linked to cranioectodermal dysplasia.