Associated Papers
RPGRIP1-related retinal disease presenting as isolated cone dysfunction.
Khan AO
Ophthalmic Genetics, 2023
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant
Identifying two pathogenic variants in a patient with pigmented paravenous retinochoroidal atrophy.
Liu Z et al.
Open Life Sciences, 2023
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands.
Xu Y et al.
Experimental Eye Research, 2016
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort.
Wang H et al.
Investigative Ophthalmology & Visual Science, 2015
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
Huang L et al.
Plos One, 2013
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