Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1

Katsanis N, Shroyer NF, Lewis RA, Cavender JC, Al-Rajhi AA, Jabak M, Lupski JR. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001 Jun;59(6):424-9. PubMed PMID: 11453974.