TBX6 and Cowden syndrome 1: A CS cohort study in Han Chinese showed that the compound inheritance of TBX6 included a rare null mutation and a common risk haplotype T-C-A (composed of the three single-nucleotide polymorphisms, namely, rs2289292, rs3809624, and rs3809627) could lead to TBX6-associated congenital scoliosis (TACS), which accounted for 10% of patients with CS in this cohort (15).