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Br J Ophthalmol. 1985 Dec;69(12):904-8.

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.

PMID:
4084482
PMCID:
PMC1040879
[Indexed for MEDLINE]
Free PMC Article
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