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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...

詳細記述

保存先:
書誌詳細
出版年:Clin Chest Med
主要な著者: El-Chemaly, Souheil, Young, Lisa R.
フォーマット: Artigo
言語:Inglês
出版事項: 2016
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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