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Br J Ophthalmol 1985;69:904-908 doi:10.1136/bjo.69.12.904
  • Research Article

Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.

Abstract

Four cases of albinism with haemorrhagic diathesis (Hermansky-Pudlak syndrome) are presented. The cases displayed wide phenotypic variation. Electroretinography was performed on all four patients and was found to be normal. One patient developed a cutaneous malignant melanoma.

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