In 2000, the cause of CED was discovered to be mutation within one region (the latency-associated-peptide portion) of the gene that encodes transforming growth factor β1 (TGFβ1).(43,44) These mutations in TGFβ1 seem to enhance TGFβ1 anabolic effects within bone by freeing TGFβ1 from the latency-associated-peptide (see Discussion).(6) To date, 10 distinctive mutations in this domain have been identified.(6,30) Nevertheless, there is evidence for locus heterogeneity causing CED.(45). Here, TGFB1 is linked to cranioectodermal dysplasia.