title: Hermansky F, Pudlak P. Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies. Blood. 1959;14(2):162-169.
abstract: This landmark article by Frantisek Hermansky and Paulus Pudlak, clinicians in Prague, Czechoslovakia, is the first to describe 2 unrelated individuals with what is now called Hermansky-Pudlak syndrome, a bleeding disorder that occurs in association with oculocutaneous albinism. The definition of this syndrome resulted not only in improved care of these patients but also in a functional and molecular understanding of the disease and the role of dense granule secretion in platelet function. Hermansky-Pudlak syndrome is now known to be related to defective dense granule biogenesis due to mutations in any of ≥9 different genes.
mesh_terms: D000328:Adult; D000417:Albinism / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D001854:Bone Marrow Cells / Q000378:metabolism / Q000473:pathology*; D005260:Female; D006474:Hemorrhagic Disorders / Q000150:complications / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008297:Male; D020417:Nystagmus, Congenital / Q000378:metabolism / Q000473:pathology*; D010858:Pigmentation