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Journal Article
Journal Article
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 3/2019, Volume 257, Issue 3, pp. 619 - 628
Journal Article
Ophthalmic Genetics, ISSN 1381-6810, 09/2019, Volume 40, Issue 5, pp. 455 - 460
Introduction: Mutations in Kizuna (KIZ), a gene involved in ciliary function, have been previously associated with rod-cone dystrophy with relative macular... 
Kizuna | rod-cone dystrophy | retinitis pigmentosa | ciliopathy
Journal Article
Journal Article
Retinal Cases and Brief Reports, ISSN 1935-1089, 10/2015, Volume 9, Issue 4, pp. 298 - 301
To describe a case of rod-cone dystrophy associated with Williams syndrome. This is an observational case report. The medical history was assessed. Examination... 
fluorescence in situ hybridization | rod-cone dystrophy | electroretinography | Williams-Beuren syndrome | Williams Syndrome - complications | Female | Retinitis Pigmentosa - etiology | Humans | Adolescent | Vision Disorders - etiology
Journal Article
Journal Article
Ophthalmology, ISSN 0161-6420, 2011, Volume 118, Issue 6, pp. 1130 - 1136
Journal Article