Hermansky-Pudlak Syndrome: Spectrum in Oman
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DOI: 10.1097/mph.0000000000002552
Abstract: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder, characterized by oculocutaneous albinism, a hemorrhagic diathesis secondary to storage pool-deficient platelets, and in some patients’ pulmonary fibrosis, granulomatous colitis, and immunodeficiency. To date, 11 different… read more here.
Keywords: hermansky pudlak; hps type; pudlak syndrome;