Hermansky-Pudlak syndrome

名词 n.

英文释义

名词 n.
  1. A rare autosomal recessive disorder resulting in oculocutaneous albinism, bleeding problems due to a platelet abnormality, and lysosomal accumulation of ceroid lipofuscin. uncountable

词源

Named for František Heřmanský (1916–1980) and Pavel Pudlák (1927–1993).
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