Bi-allelic loss of function variants of <i>TBX6</i> causes a spectrum of malformation of spine and rib including congenital scoliosis and spondylocostal dysostosis

Abstract

Our study suggests that bi-allelic loss of function variants of <i>TBX6</i> cause a spectrum of phenotypes including CS and SCD, depending on the severity of the loss of <i>TBX6</i> function.