Associated Papers
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
Clinical and Mutation Spectrum of Autosomal Recessive Non-Syndromic Oculocutaneous Albinism (nsOCA) in Pakistan: A Review.
Ullah MI
Genes, 2022
Genetic Causes of Oculocutaneous Albinism in Pakistani Population.
Sajid Z et al.
Genes, 2021
Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population.
Shahzad M et al.
Scientific Reports, 2017
28266639 (PubMed )
Supplement: srep44185-s1.pdf
Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population.
Jaworek TJ et al.
Orphanet Journal of Rare Diseases, 2012
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