The Hermansky-Pudlak Syndrome: Clinical Features and Imperatives from an Ophthalmic Perspective
Author:
Publisher
Informa UK Limited
Subject
Ophthalmology,General Medicine
Link
http://www.tandfonline.com/doi/pdf/10.3109/08820538.2013.825280
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1. Albinism Associated with Hemorrhagic Diathesis and Unusual Pigmented Reticular Cells in the Bone Marrow: Report of Two Cases with Histochemical Studies
2. Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico
3. A new variant of Hermansky-Pudlak syndrome due to mutations in a gene responsible for vesicle formation
4. Disorders of Lysosome-Related Organelle Biogenesis: Clinical and Molecular Genetics
5. AP-3 Mediates Tyrosinase but Not TRP-1 Trafficking in Human Melanocytes
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1. Unraveling Hermansky–Pudlak syndrome type 7: a case report and comprehensive literature review on the identification of DTNBP1 variants;Ophthalmic Genetics;2023-12-14
2. Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes;Genes;2023-01-05
3. Whole-Exome Sequencing Identified a Novel Homozygous Frameshift Mutation of HPS3 in a Consanguineous Family with Hermansky-Pudlak Syndrome;BioMed Research International;2021-09-24
4. Hermansky–Pudlak syndrome: Mutation update;Human Mutation;2020-01-23
5. Albinism;Hereditary Chorioretinal Disorders;2020
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