1. A novel X-linked trichothiodystrophy associated with a nonsense mutation in RNF113A. Issue 4 (22nd January 2015) Authors: Corbett, Mark A; Dudding-Byth, Tracy; Crock, Patricia A; Botta, Elena; Christie, Louise M; Nardo, Tiziana; Caligiuri, Giuseppina; Hobson, Lynne; Boyle, Jackie; Mansour, Albert; Friend, Kathryn L; Crawford, Jo; Jackson, Graeme; Vandeleur, Lucianne; Hackett, Anna; Tarpey, Patrick; Stratton, Michael... Journal: Journal of medical genetics Issue: Volume 52:Issue 4(2015) Page Start: 269 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗