WDR19 and cranioectodermal dysplasia: For example, we have recently shown that a combination of the missense variant of IFT144, p.(Leu710Ser) and the C-terminally truncated variant, p. (Arg1103*), a combination which is found in CED individuals43, exacerbated ciliogenesis defects when expressed in IFT144-KO cells, whereas expression of the missense variant alone in IFT144-KO cells, which mimics the cellular situation of recessive retinitis pigmentosa44, rescued the ciliary defects, as with the expression of IFT144(WT)33.