title: Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.
authors.affiliation: National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
authors.forename: Min
authors.initials: M
authors.lastname: Zhou
authors.forename: Libe
authors.initials: L
authors.lastname: Gradstein
authors.forename: John A
authors.initials: JA
authors.lastname: Gonzales
authors.forename: Ekaterini T
authors.initials: ET
authors.lastname: Tsilou
authors.forename: William A
authors.initials: WA
authors.lastname: Gahl
authors.forename: Chi-Chao
authors.initials: CC
authors.lastname: Chan
mesh_terms: D000328:Adult; D001251:Astigmatism / Q000175:diagnosis; D005099:Exotropia / Q000175:diagnosis*; D005124:Eye Abnormalities / Q000473:pathology*; D017809:Fatal Outcome; D005584:Fovea Centralis / Q000002:abnormalities* / Q000473:pathology; D022861:Hermanski-Pudlak Syndrome / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000175:diagnosis*; D041623:Tomography, Optical Coherence
chemical_list: C102160:HPS1 protein, human; D008565:Membrane Proteins