1. Anal atresia, coloboma, microphthalmia, and nasal skin tag in a female patient with 3.5 Mb deletion of 3q26 encompassing SOX2. Issue 6 (23rd April 2013) Authors: Salem, Nabeel J.M.; Hempel, Maja; Heiliger, Katrin‐Janine; Hosie, Stuart; Meitinger, Thomas; Oexle, Konrad Journal: American journal of medical genetics Issue: Volume 161:Issue 6(2013:Jun.) Page Start: 1421 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗