Associated Papers
Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Heutinck PAT et al.
Investigative Ophthalmology & Visual Science, 2024
39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1
Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.
Moya R et al.
International Journal of Molecular Sciences, 2024
Spectrum, frequency, and genotype-phenotype of mutations in SPATA7.
Xiao X et al.
Molecular Vision, 2019
Mutations in known disease genes account for the majority of autosomal recessive retinal dystrophies.
Patel N et al.
Clinical Genetics, 2018
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