1. A new ocular phenotype associated with an unexpected but known systemic disorder and mutation: novel use of genomic diagnostics and exome sequencing. Issue 9 (23rd August 2011) Authors: Majewski, Jacek; Wang, Zibo; Lopez, Irma; Al Humaid, Sulaiman; Ren, Huanan; Racine, Julie; Bazinet, Alex; Mitchel, Grant; Braverman, Nancy; Koenekoop, Robert K Journal: Journal of medical genetics Issue: Volume 48:Issue 9(2011) Page Start: 593 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗