Ocular findings in the Hermansky-Pudlak syndrome.

BACKGROUND: The Hermansky-Pudlak syndrome (HPS) is defined by the autosomal recessively inherited triad of tyrosinase-positive oculocutaneous albinism, bleeding diathesis and accumulation of ceroid in tissues. Late complications include: interstitial pulmonary fibrosis; inflammatory bowel disease; a...

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Detalles Bibliográficos
Autores principales: Izquierdo, N J, Townsend, W, Hussels, I E
Formato: Artigo
Lenguaje:Inglês
Publicado: 1995
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1312057/
https://ncbi.nlm.nih.gov/pubmed/8719678
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