AP3B1 Hermansky-Pudlak syndromeHPS-2HPS2Hermansky-Pudlak syndrome 2Hermansky-Pudlak syndrome caused by mutation in AP3B1Hermansky-Pudlak syndrome type 2Hermansky Pudlak syndrome 2Hermansky-Pudlak syndrome with neutropeniaPlatelet defects and oculocutaneous albinism
Definition
A type of Hermansky-Pudlak syndrome (HPS), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.
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