Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder causing
oculocutaneous albinism, bleeding disorder and ceroid lipofuscinosis. Platelets from HPS …

Discussion The patient in this study was diagnosed with HPS based on typical clinical and
laboratory findings such as oculocutaneous albinism, decreased visual acuity, nystagmus …

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder caused by
defects in 10 human HPS genes, characterized by oculocutaneous albinism (OCA) and …

Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare inherited platelet
disorder characterized by bleeding diathesis, oculocutaneous albinism (OCA) and a myriad …

Summary Background Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive
disease characterized by oculocutaneous albinism and platelet dysfunction. We report on a …

Hermansky-Pudlak syndrome (HPS), a rare heterogeneous autosomal recessive disorder, is
characterized by oculocutaneous albinism (OCA) and a bleeding diathesis due to a defect …

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder of oculocutaneous
albinism and bleeding attributable to storage-pool-deficient platelets. Although at least 14 …

Abstract The Hermansky–Pudlak syndrome (HPS) is a rare genetically heterogeneous
autosomal recessive disorder, characterized by tyrosinase‐positive oculocutaneous …

Hermansky–Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by
oculocutaneous albinism, platelet dysfunction and ceroid deposition. We report suspected …

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive inherited disease consisting
of (1) partial oculocutaneous albinism (with nystagmus, strabism, and visual acuity loss),(2) …