• After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report
• An overview of oculocutaneous albinism: TYR gene mutations in five Colombian individuals
• AP-3 complex subunit delta gene, ap3d1, regulates melanogenesis and melanophore survival via autophagy in zebrafish (Danio rerio)
• Change in visual acuity in albinism in the early school years
• Coexpression of wild-type tyrosinase enhances maturation of temperature-sensitive tyrosinase mutants
• Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)
• Genetics of fibrosing lung diseases
• Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
• Informed reasoning: repositioning of nitisinone to treat oculocutaneous albinism
• Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database
• Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism
• Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
• Oculocutaneous Albinism Type 1 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
• Oculocutaneous Albinism Type 1 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
• Oculocutaneous albinism type 1B associated with a functionally significant tyrosinase gene polymorphism detected with Whole Exome Sequencing
• Visual Development During the Second Decade of Life in Albinism