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Hermansky-Pudlak Syndrome: Spectrum in Oman.

Journal of pediatric hematology/oncology - 1 Apr 2023

Nazir Hanan F, Al Sukaiti Nashat, Khater Doaa, Elbeshlawy Ismail, Hassanein Nehad

Abstract excerpt

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 types of Hermansky-Pudlak syndrome were identified. HPS type 2 is distinctively characterized by severe neutropenia and...

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PMID: 36162005
DOI: 10.1097/MPH.0000000000002552

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