Associated Papers
Cutaneous Depigmentation in a Child With Ocular Albinism Type 1: Expanding the Clinical Phenotype.
Monteiro M et al.
Cureus, 2025
Pigmentation Pattern of Iris and Fundus in 75 Chinese Families With GPR143-Associated Ocular Albinism.
Chen S et al.
Investigative Ophthalmology & Visual Science, 2025
GPR143-Associated Ocular Albinism in a Hispanic Family and Review of the Literature.
Aneja A et al.
Genes, 2025
Choroidal Neovascularization in a Female Carrier of Ocular Albinism with a GPR143 Mutation: A Case Report.
Jang JH et al.
Korean Journal of Ophthalmology : Kjo, 2025
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
Differences of ocular oscillations and neuro-retinal structures in patients with nystagmus caused by GPR143 and FRMD7 gene variants.
Huang L et al.
Indian Journal of Ophthalmology, 2024
Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center.
Seguy PH et al.
Investigative Ophthalmology & Visual Science, 2023
GPR143 mutations in an X-linked infantile nystagmus syndrome cohort in Southeast China.
Xu J et al.
Molecular Vision, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
Prospective study of pediatric patients presenting with idiopathic infantile nystagmus-Management and molecular diagnostics.
Aychoua N et al.
Frontiers in Genetics, 2022
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.
Zhong J et al.
Ophthalmic Genetics, 2021
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
Identification of a novel GPR143 mutation in X-linked ocular albinism with marked intrafamilial phenotypic variability.
Jung JH et al.
Journal of Genetics, 2018
Hermansky-Pudlak syndrome genes are frequently mutated in patients with albinism from the Arabian Peninsula.
Khan AO et al.
Clinical Genetics, 2016
A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus.
Kim US et al.
International Journal of Ophthalmology, 2016
A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus.
Hu J et al.
Molecular Vision, 2011
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.
Peng Y et al.
Molecular Vision, 2009
Mutational analysis of the OA1 gene in ocular albinism.
Camand O et al.
Ophthalmic Genetics, 2003
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene.
Oetting WS
Human Mutation, 2002
Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol.
Hegde M et al.
Genetic Testing, 2002
Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America.
Bassi MT et al.
Human Genetics, 2001
Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.
Oetting WS et al.
Human Mutation, 1999