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Hermansky-Pudlak综合征研究进展

Teng LIU,Aihua WEI

China Medical Abstracts of Dermatology（2020）

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Abstract
Hermansky-Pudlak综合征(Hermansky-Pudlak syndrome,HPS)是一种综合征型白化病,多呈常染色体隐性遗传,具有典型的遗传异质性,主要表现眼或眼皮肤白化症状、出血倾向以及由溶酶体相关细胞器功能缺陷引起的其他症候群.本文对HPS的发病率、基因变异种类、表型、发生机制以及基因型与表型之间的关系等进行综述.
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