• A case for the inclusion of oculocutaneous albinism as a skin-related Neglected Tropical Disease
• A case of metastasis of giant basal cell carcinoma in oculocutaneous albinism
• A patient with albinism and retinitis pigmentosa, a case report
• After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report
• Albinism
• Amelanotic melanoma in oculocutaneous albinism type 4 detected using violet-light dermoscopy
• Annular Erythematous Plaques With Central Hypopigmentation on Sun-Exposed Skin
• Biogenesis of lysosome-related organelles complex-2 is an evolutionarily ancient proto-coatomer complex
• Black Piedra in an Amerindian Girl with Oculocutaneous Albinism Type 2
• Cataract surgery and artificial iris implantation in patient with oculocutaneous albinism: a case report
• Chediak-Higashi Syndrome
• Chediak-Higashi Syndrome
• Chediak-Higashi syndrome
• Clinical and mutational characteristics of oculocutaneous albinism type 7
• Clusters of oculocutaneous albinism in isolated populations in Brazil: A community genetics challenge
• Comment on "low-vision intervention for oculocutaneous albinism in a tertiary eye care hospital in India"
• Comparative transcriptome analysis reveals growth and molecular pathway of body color regulation in turbot (Scophthalmus maximus) exposed to different light spectrum
• Correlation between refraction and axial length in Albinos
• Daylight photodynamic therapy as a treatment for for actinic field change in patients diagnosed with Oculocutaneous albinism in Sub-Saharan Africa
• Determining a Worldwide Prevalence of Oculocutaneous Albinism: A Systematic Review
• Diagnosis of a case with Hermansky-Pudlak syndrome type 5 through high-throughput sequencing and a literature review
• Does Foveal Hypoplasia Affect Emmetropization in Patients with Albinism?
• Early ophthalmic findings in Hermansky-Pudlak syndrome type 9
• Evaluating the Cysteine-Rich and Catalytic Subdomains of Human Tyrosinase and OCA1-Related Mutants Using 1 μs Molecular Dynamics Simulation
• Evolving red papule in a patient with oculocutaneous albinism
• Forensic DNA Phenotyping: Genes and Genetic Variants for Eye Color Prediction
• Fovea Plana and Fundus Hypopigmentation in Prader-Willi Syndrome
• Foveal Hypoplasia in a Child With Tyrosinase-Positive Albinism
• Functional analysis of two mutation sites in the OCA2 gene
• Generation and characterization of retinal pigment epithelium from patient iPSC line to model oculocutaneous albinism (OCA)1A disease
• Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family
• Genetic and dermoscopic findings in a case series of children with oculocutaneous albinism
• Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF
• Genetic landscape of forensic DNA phenotyping markers among Mediterranean populations
• Genetic Linkage between CAPN5 and TYR Variants in the Context of Albinism and Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy Absence: A Case Report
• Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
• Genetic variants in melanogenesis proteins TYRP1 and TYR are associated with the golden rhesus macaque phenotype
• Genotypic spectrum of albinism in Mali
• Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
• Hermansky-Pudlak Syndrome
• Hermansky-Pudlak Syndrome Type 2: A Case Report on an Ultra-Rare Disorder
• Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease
• Hermansky-Pudlak Syndrome with an Improvement in the Respiratory Symptoms after the Administration of Pirfenidone: A Case Report
• Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression
• Hermansky-Pudlak Syndrome: A Rare Congenital Disorder With Interstitial Lung Disease
• Heterochromia
• Hypopigmentation as a diagnostic clue in primary extramammary Paget disease: Case report and short literature review
• Identification and characterization of the compound heterozygous variants of TYR gene in a northern Chinese family with Oculocutaneous albinism type 1
• Identification of Candidate Genes for Red-Eyed (Albinism) Domestic Guppies Using Genomic and Transcriptomic Analyses
• Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India
• Impaired Direction Selectivity in the Nucleus of the Optic Tract of Albino Mice
• In vitro and in vivo pharmacokinetic characterization, chiral conversion and PBPK scaling towards human PK simulation of S-MRI-1867, a drug candidate for Hermansky-Pudlak syndrome pulmonary fibrosis
• Integrated sun protection advice for the South African population
• Integrative functional genomic analyses identify genetic variants influencing skin pigmentation in Africans
• Long-term nintedanib treatment for progressive pulmonary fibrosis associated with Hermansky-Pudlak syndrome type 1 followed by lung transplantation
• Management of Severe Neutropenia in a Child With Chediak-Higashi Syndrome Using Granulocyte-Colony Stimulating Factor (G-CSF): A Case Report
• Missing Heritability in Albinism: Deep Characterization of a Hungarian Albinism Cohort Raises the Possibility of the Digenic Genetic Background of the Disease
• Mutational Analysis of TYR, OCA2, SLC45A2, and TYRP1 Genes Identifies Novel and Reported Mutations in Chinese Families with Oculocutaneous Albinism
• Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
• Novel compound heterozygous mutations in OCA2 gene were identified in a Chinese family with oculocutaneous albinism
• Novel variants of HPS6 cause suspected ocular albinism: A report of two cases and the profile of HPS6 variants
• Nystagmus and Foveal Hypoplasia in a Carrier of Oculocutaneous Albinism
• Nystagmus Characteristics in Albinism: Unveiling the Link to Foveal Hypoplasia and Visual Acuity
• Oculocutaneous Albinism and Ocular Albinism Overview
• Oculocutaneous albinism in a Puerto Rican patient
• Oculocutaneous albinism type 4: Novel compound heterozygous mutations in the SLC45A2 gene in a Chinese case
• Ophthalmologic Phenotype-Genotype Correlations in Patients With Oculocutaneous Albinism Followed in a Reference Center
• Recent Advances in Clinical Research on Rare Intractable Hereditary Skin Diseases in Japan
• Reduced myeloid commitment and increased uptake by macrophages of stem cell-derived HPS2 neutrophils
• Reduction of lens size in PAX6-related aniridia
• Reply to letter to editor: Low-vision intervention for oculocutaneous albinism in a tertiary eye care hospital in India
• Runs of Homozygosity Detection and Selection Signature Analysis for Local Goat Breeds in Yunnan, China
• Segmental hypopigmentation and unilateral fibrous patches: an unusual presentation of tuberous sclerosis complex with a novel TSC2 mutation
• Sodium fluorescein dye as an adjunct in vitrectomy for rhegmatogenous retinal detachment in oculocutaneous albinism
• Spectrum of <em>LYST</em> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature
• Stacked implantation of two prosthetic iris devices for patients with iris defects: A modified surgical technique
• Structural insights into pink-eyed dilution protein (Oca2)
• Successful treatment of retinopathy of prematurity in oculocutaneous albinism with OCA2 variants: a case report and review of literature
• The Impact of WhatsApp as a Health Education Tool in Albinism: Interventional Study
• The molecular landscape of oculocutaneous albinism in India and its therapeutic implications
• Tilted disc in eyes with fovea plana
• Two-pore channel 2 is required for soluble adenylyl cyclase-dependent regulation of melanosomal pH and melanin synthesis
• TYR mutation in a Chinese population with oculocutaneous albinism: Molecular characteristics and ophthalmic manifestations
• Ultra-widefield fundus image of an oculocutaneous albinism patient with rhegmatogenous retinal detachment
• Unraveling Hermansky-Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of <em>DTNBP1</em> variants
• Unsuccessful transscleral cyclophotocoagulation in oculocutaneous albinism
• Unsuspected consequences of synonymous and missense variants in OCA2 can be detected in blood cell RNA samples of patients with albinism
• Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families
• Vision-Related Quality of Life in Danish Patients with Albinism and the Impact of an Updated Optical Rehabilitation
• Visual acuity improvement in children with albinism beyond the first decade of life