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Case Reports
. 1985 Dec;69(12):904-8.
doi: 10.1136/bjo.69.12.904.

Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome

P E Kinnear, E G Tuddenham
Case Reports

Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome

P E Kinnear et al. Br J Ophthalmol. 1985 Dec.

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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