Associated Papers
MAGI-ACMG: Algorithm for the Classification of Variants According to ACMG and ACGS Recommendations.
Cristofoli F et al.
Genes, 2023
37628650 (PubMed )
Supplement: genes-14-01600-s001.zip › genes-2481925-supplementary.xlsx › totale
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM et al.
Human Molecular Genetics, 2022
Novel variants in the RDH5 Gene in a Chinese Han family with fundus albipunctatus.
Qian T et al.
Bmc Ophthalmology, 2022
Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe).
Skorczyk-Werner A et al.
Journal of Applied Genetics, 2015
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
Multimodal imaging in hereditary retinal diseases.
Pichi F et al.
Journal of Ophthalmology, 2013
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani families.
Ajmal M et al.
Molecular Vision, 2012
Lack of autofluorescence in fundus albipunctatus associated with mutations in RDH5.
Schatz P et al.
Retina (philadelphia, Pa.), 0
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