Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood.
Orphanet journal of rare diseases（2018）
摘要
HPS-2 is characterized by a rapidly fibrosing lung disease during early childhood. Effective treatments are required.
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关键词
Hermansky-Pudlak syndrome type 2,Childhood,Pulmonary fibrosis,Tachydyspnea,Pulmonary phenotype
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