1. A novel point mutation A170P in the SHOX gene defines impaired nuclear translocation as a molecular cause for Léri–Weill dyschondrosteosis and Langer dysplasia. Issue 6 (1st June 2004) Authors: Sabherwal, N; Blaschke, R J; Marchini, A; Heine-Suner, D; Rosell, J; Ferragut, J; Blum, W F; Rappold, G Journal: Journal of medical genetics Issue: Volume 41:Issue 6(2004) Page Start: e83 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗