Exon sequencing of <i>PAX3</i> and <i>T</i> (<i>brachyury</i>) in cases with spina bifida

Abstract

These studies provide some evidence that common variants of PAX3 and T are associated with spina bifida. Rare and novel variants in these genes were also identified in affected individuals. However, additional studies will be required to determine whether these variants influence the risk of spina bifida.