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Journal of Investigative Dermatology, ISSN 0022-202X, 09/2014, Volume 134, Issue 9, pp. 2331 - 8
Gamma-glutamyl carboxylase (GGCX) mutations have been reported in patients with a pseudoxanthoma elasticum (PXE)-like phenotype, loose redundant skin, and... 
Journal Article
Progress in Retinal and Eye Research, ISSN 1350-9462, 11/2013, Volume 37, pp. 31 - 67
Primary open angle glaucoma (POAG) is a complex progressive optic nerve neuropathy triggered by both environmental and genetic risk factors. Several ocular... 
Journal Article
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 03/2019, Volume 60, Issue 4, pp. 1192 - 1203
PURPOSE. To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. METHODS. In this multicenter case series, we included 22 patients... 
Phenotypic spectrum | RP1 | Retinitis pigmentosa | Cone-rod dystrophy | Macular dystrophy | PROTEIN | phenotypic spectrum | retinitis pigmentosa | RHODOPSIN | OPHTHALMOLOGY | cone-rod dystrophy | macular dystrophy | ISCEV STANDARD | RETINITIS | IDENTIFICATION
Journal Article
PLoS ONE, ISSN 1932-6203, 2013, Volume 8, Issue 12, pp. e83345 - e83345
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Journal Article
Ophthalmology, ISSN 0161-6420, 2012, Volume 119, Issue 4, pp. 819 - 826
Journal Article
Journal Article
Journal of molecular medicine (Berlin, Germany), ISSN 0946-2716, 2010, Volume 88, Issue 5, pp. 467 - 475
Journal Article
Journal of molecular medicine (Berlin, Germany), ISSN 0946-2716, 2011, Volume 89, Issue 11, pp. 1125 - 1135
Journal Article