lt has been debated for decades if there is a genetic aetiology underlying Möbius syndrome, a neurological disorder characterized by facial paralysis. Here Tomas-Roca et al. use exome sequencing and identify de novo mutations in PLXND1 and REV3L, representing converging pathways in hindbrain development.
- Laura Tomas-Roca
- Anastasia Tsaalbi-Shtylik
- Hans van Bokhoven
