Associated Papers
Oculocutaneous albinism in a patient with an OCA2 variant: molecular and clinical insights.
Neissi M et al.
Asian Biomedicine : Research, Reviews and News, 2025
Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families.
Khan J et al.
Bmc Ophthalmology, 2024
Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism.
Jiang B et al.
Molecular Genetics & Genomic Medicine, 2024
37882226 (PubMed )
Supplement: MGG3-12-e2297-s002.xlsx › Supplementary_Table_2
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI
Genes, 2022
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