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Hermansky-Pudlak syndrome |
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Hermansky-Pudlak Syndrome (HPS) A rare type of albinism characterized by a problem with blood clotting and a buildup of waxy material in lungs and intestines. Mentioned in: Albinism Hermansky-Pudlak syndrome [hərmän′skē poo͡d′läk] Etymology: F. Hermansky, Czechoslovakian internist, 20th century; P. Pudlak, Czechoslovakian internist, 20th century an autosomal-recessive form of oculocutaneous albinism, with a hemorrhagic diathesis secondary to a platelet defect and accumulation of a ceroid-like substance in the reticuloendothelial system, oral mucosa, and urine. How to thank TFD for its existence? Tell a friend about us, add a link to this page, add the site to iGoogle, or visit webmaster's page for free fun content. |
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