Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome.
Open Access
- 1 December 1985
- journal article
- research article
- Published by BMJ in British Journal of Ophthalmology
- Vol. 69 (12) , 904-908
- https://doi.org/10.1136/bjo.69.12.904
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.This publication has 27 references indexed in Scilit:
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