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赫尔曼斯基-普德拉克综合征:一项临床病理研究。

Hermansky-Pudlak syndrome: a clinicopathologic study.

作者信息

Schinella R A, Greco M A, Garay S M, Lackner H, Wolman S R, Fazzini E P

出版信息

Hum Pathol. 1985 Apr;16(4):366-76. doi: 10.1016/s0046-8177(85)80230-6.

Abstract

The Hermansky-Pudlak syndrome is a rare disease characterized by multisystemic involvement. Seven families with the disorder were identified in the Puerto Rican population of one municipal hospital, suggesting that the incidence in the Puerto Rican community is sufficient to warrant both dissemination of information about the disease and further investigation. The present study was an attempt to achieve both of these goals.

摘要

赫尔曼斯基-普德拉克综合征是一种罕见疾病,其特征为多系统受累。在一家市级医院的波多黎各人群中识别出了七个患有该疾病的家族,这表明在波多黎各社区的发病率足以保证对该疾病进行信息传播和进一步研究。本研究旨在实现这两个目标。

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