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中文Hermansky-Pudlak Syndrome Due to Ap-3 Deficiency
Alias:
Hermansky-Pudlak Syndrome with Neutropenia
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Hermansky-Pudlak 综合征由于 Ap-3 缺陷，也称为 Hermansky-Pudlak 综合征伴有中性粒细胞减少症。与 Hermansky-Pudlak 综合征由于 Ap-3 缺陷有关的重要基因是 AP3B1 (Adaptor Related Protein Complex 3 Subunit Beta 1)。附属组织包括皮肤和眼睛。
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MALACARDS
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