Last update 01 Nov 2024

Hermanski-Pudlak Syndrome

Basic Info

Synonyms
Albinism with haemorrhagic diathesis, Albinism with hemorrhagic diathesis, Alpha storage pool disease
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Introduction
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.

Analysis

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