Notably, FGF9 showed the greatest fold-upregulation (2.7x) of 65 transcripts within the region, consistent with the TAD modelling and supporting a likely causal role of the rearrangement for the craniosynostosis phenotype (Korona D, Hashimoto AS, Pei Y, Calpena E, Sloane-Stanley J, Riva SG, Schwessinger R, Forzano F, Chintawar S, Duggal G, Wall SA, Hughes JR, Twigg SRF, Wilkie AOM: Evaluating the pathogenic significance of unique chromosomal variants in craniosynostosis using patient-derived induced pluripotent stem cells and mouse modelling, submitted). Here, FGF9 is linked to craniosynostosis.