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Hermansky-Pudlak Syndrome; a Case Report
PURPOSE: To report a case of Hermansky-Pudlak syndrome. CASE REPORT: A seven-year-old boy presented with marked generalized hypopigmentation, ocular exodeviation and nystagmus. He had history of easy bruising. Examination revealed green irides with marked transillumination, hypopigmented fundi and f...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Ophthalmic Research Center
2010
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381088/ https://www.ncbi.nlm.nih.gov/pubmed/22737372 |