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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome.

Cases of Hermansky-Pudlak syndrome may present to the dermatologist, ophthalmologist or haematologist. Classically the diagnosis rests on the triad of oculocutaneous albinism, a bruising tendency and the presence of characteristic pigmented-containing cells in the bone marrow. Specific tests of platelet function can, however, suggest the diagnosis without recourse to invasive techniques. We describe the disease in two young sisters.[1]

References

  1. Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. Ellis, J.P., Gray, A., Richards, F. Journal of the Royal Society of Medicine. (1995) [Pubmed]
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