Associated Papers
Clinical and Genetic Analysis of RDH12-Associated Retinopathy in 27 Chinese Families: A Hypomorphic Allele Leads to Cone-Rod Dystrophy.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
Report from a Workshop on Accelerating the Development of Treatments for Inherited Retinal Dystrophies Associated with Mutations in the RDH12 Gene.
Sofia F et al.
Translational Vision Science & Technology, 2020
32855876 (PubMed )
Supplement: tvst-9-8-30_s001.docx
Identity-by-descent-guided mutation analysis and exome sequencing in consanguineous families reveals unusual clinical and molecular findings in retinal dystrophy.
Coppieters F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2014
Massively parallel sequencing for early molecular diagnosis in Leber congenital amaurosis.
Coppieters F et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2012
Novel RDH12 sequence variations in Leber congenital amaurosis.
Sodi A et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2010
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