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Abstract Background: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in the biogenesis of lysosome-related organelles (LROs) across multiple tissues. This condition typically presents with a triad of oculocutaneous albinism, platelet dysfunction, and visceral complications. Hermansky-Pudlak syndrome type 1 (HPS-1), caused by pathogenic variants in the HPS1 gene, carries a high risk for progressive pulmonary fibrosis.
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