Specifically, duplications affecting ACACA were observed in nine TS/PTD cases and one control (for breakpoints, see Figure S12), corresponding to an OR of 26.72 (3.59–199.00) (P = 5.69E-07, adjusted P = 0.0027 for gene association analysis, P = 2.62E-7, adjusted P = 0.0010 for breakpoint association analysis). This evidence concerns the gene ACACA and Bjornstad syndrome.