Ocular pathologic features of Hermansky-Pudlak syndrome type 1 in an adult.
Zhou
Min
M
National Eye Institute, National Institutes of Health, 10 Center Drive, Bethesda, MD 20892, USA.
Gradstein
Libe
L
Gonzales
John A
JA
Tsilou
Ekaterini T
ET
Gahl
William A
WA
Chan
Chi-Chao
CC
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
C102160:HPS1 protein, human; D008565:Membrane Proteins