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Hermansky-Pudlak Syndrome
Hermansky-Pudlak Syndrome (HPS) is an autosomal recessive disorder that is associated with oculocutaneous albinism, bleeding diathesis, granulomatous colitis, and highly penetrant pulmonary fibrosis in some subtypes, including HPS-1, HPS-2, and HPS-4. HPS pulmonary fibrosis exhibits many of the clin...
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| 出版年: | Clin Chest Med |
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| 主要な著者: | , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
2016
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4987498/ https://ncbi.nlm.nih.gov/pubmed/27514596 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ccm.2016.04.012 |
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