Hermansky-Pudlak syndrome: a clinicopathologic study.
The Hermansky-Pudlak syndrome is a rare disease characterized by multisystemic involvement. Seven families with the disorder were identified in the Puerto Rican population of one municipal hospital, suggesting that the incidence in the Puerto Rican community is sufficient to warrant both dissemination of information about the disease and further investigation. The present study was an attempt to achieve both of these goals.
D000293:Adolescent; D000328:Adult; D000417:Albinism / Q000150:complications* / Q000235:genetics; D001780:Blood Coagulation Tests; D002648:Child; D005260:Female; D006474:Hemorrhagic Disorders / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008297:Male; D008544:Melanocytes / Q000648:ultrastructure; D008854:Microscopy, Electron; D010860:Pigments, Biological / Q000032:analysis; D010974:Platelet Aggregation; D011658:Pulmonary Fibrosis / Q000150:complications / Q000473:pathology*; D013577:Syndrome
D010860:Pigments, Biological