Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1

Authors:	Bojana Radojevic Kaylie Jones Martin Klein Margarita Mauro-Herrera Ronald Kingsley David G Birch

Affiliation:	1. Department of Ophthalmology, University of Oklahoma Health Sciences Center , Oklahoma City, OK, USA;2. Rose-Silverthorne Retinal Degenerations Laboratory, Retina Foundation of the Southwest , Dallas, TX, USA https://orcid.org/0000-0003-2818-5097;3. Rose-Silverthorne Retinal Degenerations Laboratory, Retina Foundation of the Southwest , Dallas, TX, USA;4. Department of Ophthalmology, University of Oklahoma Health Sciences Center , Oklahoma City, OK, USA;5. Department of Ophthalmology, Dean McGee Eye Institute , Oklahoma City, OK, USA;6. Rose-Silverthorne Retinal Degenerations Laboratory, Retina Foundation of the Southwest , Dallas, TX, USA;7. Department of Ophthalmology, UT Southwestern Medical Center , Dallas, TX, USA

Abstract:	ABSTRACT Purpose In a cohort of eight families (11 patients) with autosomal recessive retinitis pigmentosa (arRP), we clinically characterized disease associated with mutations in CNGB1.

Keywords:	CNGB1 retinitis pigmentosa olfactory dysfunction

Purpose