On the other hand, WES analysis revealed a CNV involving exon 1 and exon 6–8 in TCF12 associated with HH and/or craniosynostosis (shown in Figure 3A), and a heterozygous missense variant, c.214C>A (p.Leu72Met) rs696217, in GHRL gene (NM_016362) associated with susceptibility to obesity (not shown). The gene discussed is TCF12; the disease is craniosynostosis.