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Case 2. A. Radiography of the right hand of the proband with brachydactyly of metacarpals. White arrows show the subcutaneous heterotopic ossification. B. Pedigree of the family. The arrow indicates the proband. C, D. Sequencing revealed a heterozygous c.1117delC variant of GNAS in the proband (C), while the variant was not detected in the mother (D).
