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Hermansky-Pudlak syndrome type

✍ Scribed by Paul D. Anderson; Marjan Huizing; David A. Claassen; James White; William A. Gahl

Book ID
106133808
Publisher
Springer
Year
2003
Tongue
English
Weight
364 KB
Volume
113
Category
Article
ISSN
0340-6717

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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