1. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia. (4th May 2019) Authors: O'Neil, Erin; Serrano, Leona; Scoles, Drew; Cunningham, Kayla E; Han, Grace; Chiang, John; Bennett, Jean; Aleman, Tomas S. Journal: Ophthalmic genetics Issue: Volume 40:Number 3(2019) Page Start: 267 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗