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  • Title: [The Hermansky-Pudlak syndrome and the differential diagnosis of oculocutaneous albinism (author's transl)].
    Author: Böhles H, Skrodzki K, Geissendörfer C, Krzywanek HJ.
    Journal: Klin Padiatr; 1981 Jan; 193(1):3-6. PubMed ID: 6782329.
    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.
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