E. V. Zhukova

Case Report: Hermansky-Pudlak syndrome type 1 in the Russian Federation presenting with genotype-phenotype discordance

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, an...