GLI3 and syndactyly: Our study shows that this novel GLI3 variant (GLI3 c.739C > T/p.Gln247∗) contributes to the malformations in a four-generation family with polydactyly and syndactyly and provides evidence for the mechanism by which the GLI3 p.Gln247∗ implicated in the pathogenesis of polydactyly and syndactyly.