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[Hermansky-Pudlak syndrome].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Feb 2013

Atili A, Lübke J, Shoukier M, Schittkowski M P

Abstract excerpt

A 1-year-old female child suffering from nystagmus and abnormal head posture (AHP) was presented by the parents in our clinic. The family history revealed the presence of von Willebrand's disease in both parents. General examination showed a female child with light blond colored skin accompanied by black-haired parents. Physical and ophthalmic examination revealed nystagmus, AHP and oculocutaneous albinism. The...

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PMID: 22806537
DOI: 10.1007/s00347-012-2621-0

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