Bicuspid aortic valve (BAV) is the most common cardiac defect and although highly heritable, few causal mutations have been identified. Here, the authors identify variants in the poly-histidine repeat motif of HOXA1 and show that its disruption leads to BAV in mice.
- Gaëlle Odelin
- Adèle Faucherre
- Stéphane Zaffran
