Author(s): Arcot Sadagopan, K
Hermansky-Pudlak syndrome is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lysosomal accumulation of ceroid lipofuscin, granulomatous colitis, and pulmonary fibrosis that is often fatal.
Hermansky-Pudlak syndrome (HPS; MIM #203300) is a rare autosomal recessive disorder characterized by oculocutaneous albinism (OCA) and a bleeding diathesis. Other clinical features may include lysosomal accumulation of ceroid lipofuscin, granulomatous colitis, and pulmonary fibrosis that is often fatal.
Read publication
