Hermansky-Pudlak syndrome
名词 n.
英文释义
名词 n.
- A rare autosomal recessive disorder resulting in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and lysosomal accumulation of ceroid lipofuscin.
词源
Named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993).
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数据来源: Wiktionary