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
- Schreyer-Shafir N, Huizing M, Anikster Y, et al. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics. Hum Mutat. 2006;27(11):1158
- Huizing M, Pederson B, Hess RA, et al. Clinical and cellular characterisation of Hermansky-Pudlak syndrome type 6. J Med Genet. 2009;46(12):803-810
- Miyamichi D, Asahina M, Nakajima J, et al. Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism. J Hum Genet. 2016;61(9):839-842