1. Characterization of a Case of Pigmentary Retinopathy in Sanfilippo Syndrome Type IIIA Associated with Compound Heterozygous Mutations in the SGSH Gene. (2nd April 2016) Authors: Wilkin, Justin; Kerr, Natalie C.; Byrd, Kathryn W.; Ward, Jewell C.; Iannaccone, Alessandro Journal: Ophthalmic genetics Issue: Volume 37:Number 2(2016) Page Start: 217 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗