Overview
Gene (OMIM No.) |
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Function of gene/protein |
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Clinical phenotype (OMIM phenotype no.) |
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Inheritance |
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Ocular features |
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Systemic features |
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Key investigations |
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Molecular diagnosis | Next generation sequencing
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Management | OcularSystemic
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Therapies under research |
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Further information |
References
- Zhang Q, Zhao B, Li W, et al. Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet. 2003;33(2):145-153
- Huizing M, Hess R, Dorward H, et al. Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5. Traffic. 2004;5(9):711-722
- Ringeisen AL, Schimmenti LA, White JG, Schoonveld C, Summers CG. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian. J AAPOS. 2013;17(3):334-336
- Stephen J, Yokoyama T, Tolman NJ, et al. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. PLoS One. 2017;12(3):e0173682. Published 2017 Mar 15. doi:10.1371/journal.pone.0173682