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单词 Hermansky Pudlak syndrome
释义

Hermansky Pudlak syndrome

英语百科

Hermansky–Pudlak syndrome

Hermansky–Pudlak syndrome (HPS) is an extremely rare autosomal recessive disorder which results in oculocutaneous albinism (decreased pigmentation), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fat-protein compound (lysosomal accumulation of ceroid lipofuscin).

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