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Hermansky-Pudlak syndrome

✍ Scribed by Mark Walker; Jeanette Payne; Bart Wagner; Ajay Vora


Book ID
108675340
Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
480 KB
Volume
138
Category
Article
ISSN
0007-1048

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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