1. A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs‐Hoeijmakers syndrome. Issue 4 (4th October 2017) Authors: Miyake, N.; Ozasa, S.; Mabe, H.; Kimura, S.; Shiina, M.; Imagawa, E.; Miyatake, S.; Nakashima, M.; Mizuguchi, T.; Takata, A.; Ogata, K.; Matsumoto, N. Journal: Clinical genetics Issue: Volume 93:Issue 4(2018) Page Start: 929 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗