Associated Papers
Comprehensive genomic diagnosis of inherited retinal and optical nerve disorders reveals hidden syndromes and personalized therapeutic options.
Diñeiro M et al.
Acta Ophthalmologica, 2020
32483926 (PubMed )
Supplement: AOS-98-e1034-s012.xlsx › Table_S12
Autosomal Dominant Retinal Dystrophies Caused by a Founder Splice Site Mutation, c.828+3A>T, in PRPH2 and Protein Haplotypes in trans as Modifiers.
Shankar SP et al.
Investigative Ophthalmology & Visual Science, 2016
Disease-associated variants of the rod-derived cone viability factor (RdCVF) in Leber congenital amaurosis. Rod-derived cone viability variants in LCA.
Hanein S et al.
Advances in Experimental Medicine and Biology, 2006
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