TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model.


Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China. [Email]


To characterize clinically measurable endophenotypes, implicating the TBX6 compound inheritance model.


16p11.2/TBX6,compound inheritance model,congenital scoliosis (CS),gene dosage,genotype-phenotype correlation,