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Eye Movement Abnormalities in Hermansky-Pudlak Syndrome

✍ Scribed by Libe Gradstein; Edmond J. FitzGibbon; Ekaterini T. Tsilou; Benjamin I. Rubin; Marjan Huizing; William A. Gahl


Book ID
116589426
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
389 KB
Volume
9
Category
Article
ISSN
1528-3933

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The Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive inherited disorder characterized by oculocutaneous albinism, tissue accumulation of ceroid pigment, and a mild to moderate bleeding diathesis attributed to storage-pool deficient (SPD) platlets. Patients have platelet aggregation and rele