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Hermansky-Pudlak Syndrome Type 6 and Renal Failure: A Rare Genetic Disease
Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive inherited diseases. Most patients exhibit albinism with nystagmus, visual acuity loss, and a platelet storage pool deficiency with bleeding diathesis. The severity and variety of other clinical features depend on the HPS subtype. W...
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Cureus
2023
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615116/ https://www.ncbi.nlm.nih.gov/pubmed/37908700 http://dx.doi.org/10.7759/cureus.47970 |