1. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis‐van Creveld syndrome. Issue 3 (24th January 2018) Authors: Niceta, M.; Margiotti, K.; Digilio, M.C.; Guida, V.; Bruselles, A.; Pizzi, S.; Ferraris, A.; Memo, L.; Laforgia, N.; Dentici, M.L.; Consoli, F.; Torrente, I.; Ruiz‐Perez, V.L.; Dallapiccola, B.; Marino, B.; De Luca, A.; Tartaglia, M. Journal: Clinical genetics Issue: Volume 93:Issue 3(2018) Page Start: 632 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗