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

Affiliation

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

Abstract

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

Keywords

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