Rare variants in TBX2 causes a syndromic disorder that affects the heart, skeleton and other tissues

In collaboration with the UDN Duke Clinical Site, we discovered a new syndromic developmental disorder that affects many tissues including the heart, skeleton and immune system. This disease is caused by rare variants in the TBX2 gene, which encodes a transcription factor, and has been named "Vertebral anomalies and variable endocrine and T-cell dysfunction (VETD, OMIM #618223)".