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. 2014 Aug 7;5(5):201–211. doi: 10.1159/000365770

Fig. 8.

Fig. 8

Association of the mutations in the ACVR1 gene with great toe malformations. Patients with the ‘classical’ mutation p.R206H usually show great toe malformations, such as fibular deviation and hypoplasia. In patients with the amino acid changes p.G356D and p.G328W, not only fibular deviation and hypoplasia, but also aplasia of the great toes has been observed. Patients with the amino acid change p.G328E have complex digital malformations (oligodactyly and syndactyly), otherwise not seen in FOP patients. The clear reports of patients with the amino acid changes p.G328R, p.R258S, p.R375P, and p.L196P describe mild or no malformations of the great toes.