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Schematic protein structure of MKRN3 and locations of loss-of-function mutations identified in patients with CPP. The three C3H zinc finger motifs are shown in yellow, the C3HC4 RING finger motif in orange, and the MKRN-specific Cys-His domain in green. The numbers correspond to the amino acid positions in the protein. Red arrows indicate the location of all described MKRN3 mutations in patients with CPP; black-red arrows indicate the mutations identified in boys with CPP.
