This compound inheritance model has been demonstrated at the RBM8A-1q21.1 locus in association with the TAR syndrome [48], the TBX6-16p11.2 locus in association with congenital scoliosis [26, 29], the F12-5q35 Sotos deletion locus in association with blood clotting [92], and the TBX4-FGF10 lung disease [93]. This evidence concerns the gene TBX6 and lung disorder.