RESEARCH ARTICLE Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5 Joshi Stephen1☯, Tadafumi Yokoyama1☯, Nathanial J. Tolman2☯, Kevin J. O'Brien1, Elena- Raluca Nicoli2, Brian P. Brooks3, Laryssa Huryn3, Steven A. Titus4, David R. Adams2,5, Dong Chen6, William A. Gahl1,2,5, Bernadette R. Gochuico1³*, May Christine V. Malicdan2,5³ 1 Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America, 2 NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, Maryland, United States of America, a1111111111 3 Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, a1111111111 Bethesda, Maryland, United States of America, 4 Division of Pre-clinical Innovation, National Center for a1111111111 Advancing Translational Sciences, National Institutes of Health, Rockville, Maryland, United States of America, 5 Office of the Clinical Director, National Human Genome Research Institute, National Institutes of a1111111111 Health, Bethesda, Maryland, United States of America, 6 Division of Hematopathology, Mayo Clinic, a1111111111 Rochester, Minnesota, United States of America ☯ These authors contributed equally to this work. ³ These authors also contributed equally to this work. *
[email protected] OPEN ACCESS Citation: Stephen J, Yokoyama T, Tolman NJ, O'Brien KJ, Nicoli E-R, Brooks BP, et al. (2017) Abstract Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5. PLoS ONE 12 Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically (3): e0173682. https://doi.org/10.1371/journal. manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pul- pone.0173682 monary fibrosis, in some subtypes.