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Family tree of 4 patients with Schaaf-Yang syndrome (SYS). In patients #1 (A) and #2 (B), a heterozygous frameshift mutation, c.1996dupC, was detected. Two novel mutations were detected in patient #3 (C; c.2217delC) and patient #4 (D; c.3449_3450delTT). The respective fathers of patients #1 and #4 were heterozygous for the respective mutations.
