1. A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma. Issue 7 (15th April 2014) Authors: Ajmal, Muhammad; Khan, Muhammad Imran; Neveling, Kornelia; Khan, Yar Muhammad; Azam, Maleeha; Waheed, Nadia Khalida; Hamel, Christian P; Ben-Yosef, Tamar; De Baere, Elfride; Koenekoop, Robert K; Collin, Rob W J; Qamar, Raheel; Cremers, Frans P M Journal: Journal of medical genetics Issue: Volume 51:Issue 7(2014) Page Start: 444 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗