1. Goldberg–Shprintzen syndrome is determined by the absence, or reduced expression levels, of KIFBP. Issue 11 (16th September 2020) Authors: MacKenzie, Katherine C.; de Graaf, Bianca M.; Syrimis, Andreas; Zhao, Yuying; Brosens, Erwin; Mancini, Grazia M. S.; Schot, Rachel; Halley, Dicky; Wilke, Martina; Vøllo, Arve; Flinter, Frances; Green, Andrew; Mansour, Sahar; Pilch, Jacek; Stark, Zornitza; Zamba‐Papanicolaou, Eleni; Christophidou‐... Journal: Human mutation Issue: Volume 41:Issue 11(2020) Page Start: 1906 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗