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(A) Skull radiographs of 3 patients with the p.Arg50* mutation showing extensive sclerotic lesions in patient 1-2 at adult age. (B) On computerized tomography, the lesions have mixed sclerotic and lytic appearance. Patient F2-1 has only one single sclerotic lesion at the age of 15 years (C) while patient F4-1 has normal skull radiograph at 6 years (D).
