Browsing St. Olavs hospital by Journals "Orphanet Journal of Rare Diseases"
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Hermansky-Pudlak syndrome type 2 manifests with fibrosing lung disease early in childhood
(Peer reviewed; Journal article, 2018)Background: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence ...