Associated Papers
Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.
Chen S et al.
Investigative Ophthalmology & Visual Science, 2025
41025874 (PubMed )
Supplement: iovs-66-12-69_s006.xlsx › Sheet1
GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.
Aneja A et al.
Genes, 2025
40869959 (PubMed )
Supplement: genes-16-00911-s001.zip › genes-3754796-supplementary.xlsx › Sheet2
Ocular findings and genomics of X-linked recessive disorders: A review.
Hassan A et al.
Indian Journal of Ophthalmology, 2022
Genotype-Phenotype Analysis and Mutation Spectrum in a Cohort of Chinese Patients With Congenital Nystagmus.
Wang XF et al.
Frontiers in Cell and Developmental Biology, 2021
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders.
Lenassi E et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
31848469 (PubMed )
Supplement: 41436_2019_722_MOESM1_ESM.pdf
Clinical and genetic variability in children with partial albinism.
Campbell P et al.
Scientific Reports, 2019
Clinical evaluation and molecular screening of a large consecutive series of albino patients.
Mauri L et al.
Journal of Human Genetics, 2017
GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.
Han R et al.
Scientific Reports, 2015
Investigation of the gene mutations in two Chinese families with X-linked infantile nystagmus.
Li N et al.
Molecular Vision, 2011
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