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  • Title: [Hermansky-Pudlak syndrome. Apropos of a case].
    Author: Dumoulin-Lagrange M, Thyss A, Manassero J, Ortonne JP, Lods F, Bayle J.
    Journal: Pediatrie; 1986; 41(5):413-8. PubMed ID: 3808845.
    Abstract:
    A new case of Hermansky-Pudlak syndrome is reported. Clinical, ophthalmological, hematological and dermatological explorations are all described in detail, with emphasis placed on the risks of non-recognition of the syndrome. The ocular albinism is associated with a cutaneous syndrome of highly variable expression and a thrombopathy generally without frank clinical consequence. The quasi spontaneous meningeal hemorrhage noted in this case is unusual. Literature data on this syndrome is reviewed and its main features are described.
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