Article
A novel homozygous HPS4 mutation in Hermansky-Pudlak syndrome: case report and literature review.
Therapeutic advances in respiratory disease - 1 Jan 2025
Liu Qianqian, Qing Wenqi, Guo Shanshan, Wang Yongsheng, Chen Yunfeng, Liu Jie
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by defects in lysosome-related organelles (LROs). Eleven HPS subtypes have been identified, each associated with mutations in distinct genes, with HPS-4 being among the rarer forms. Here, we present a 38-year-old Chinese woman with oculocutaneous albinism (OCA), bleeding tendency, and progressive pulmonary fibrosis, ultimately diagnosed...
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