1. De novoSETD5 nonsense mutation associated with diaphragmatic hernia and severe cerebral cortical dysplasia. Issue 2 (April 2017) Authors: Rawlins, Lettie E.; Stals, Karen L.; Eason, Julian D.; Turnpenny, Peter D. Journal: Clinical dysmorphology Issue: Volume 26:Issue 2(2017:Apr.) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗