Publications by authors named "Beau A Crabb"
Congenit Heart Dis
September 2016
Article Synopsis
- The study aimed to identify the genetic cause of polyvalvular syndrome using whole exome sequencing (WES) of a family trio.
- A male child exhibited various heart defects and symptoms reminiscent of Noonan and Williams syndromes, but standard tests were inconclusive.
- WES revealed a sporadic mutation in the TAB2 gene, implicating disruptions in TGF-beta signaling as a potential cause of his condition.
