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
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
Select a paper to view details