Frank Kooy, Nathalie Van der Aa and colleagues report that de novo mutations in ADNP cause a syndrome characterized by autism, intellectual disability and facial dysmorphisms. ADNP encodes a transcription factor that interacts with components of the SWI/SNF chromatin remodeling complex.
- Céline Helsmoortel
- Anneke T Vulto-van Silfhout
- Nathalie Van der Aa
