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[The Hermansky-Pudlak syndrome and the differential diagnosis of oculocutaneous albinism (author's transl)].

Research paper by H H Böhles, K K Skrodzki, C C Geissendörfer, H J HJ Krzywanek

Indexed on: 01 Jan '81Published on: 01 Jan '81Published in: Klinische Padiatrie



Abstract

Hermansky-Pudlak syndrome is reported from a 5 year old girl presenting with oculocutaneous albinism and bleeding tendency. The cause of the coagulation abnormality was found to be a disturbance of the thrombocyte function. Hermansky-Pudlak syndrome is presented together with the differential diagnosis of oculocutaneous albinism.