Hermansky-Pudlak syndrome: Symptoms, Diagnosis and Treatment
By Dr. Stephen Nelson, MD · · Genetic Medicine
Our Genetic Medicine team put together this overview of Hermansky-Pudlak syndrome for patients and families.
About this topic
Topic: Hermansky-Pudlak syndrome. A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin.
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This article is for general information and does not replace advice from your clinician.