Hermanski-Pudlak Syndrome

syndrome characterized by the triad of oculocutaneous albinism (albinism, oculocutaneous); platelet storage pool deficiency; and lysosomal accumulation of ceroid lipofuscin.


Diagnosis and therapies

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Symptoms and diagnosis

Symptoms:

    

Wikipedia

Hermansky-Pudlak syndromeAP3B1Ocular albinism

More information

Reported cases - Summary of cases reported on this diseaseWHO - World Health OrganizationPubMed - A service of the National Library of Medicine and National Institutes of HealthMEDLINE - Literature from the National Library of MedicineMeSH - Medical Subject HeadingsDeCS - Health Sciences Descriptors

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