Article
A novel mutation in a Turkish patient with Hermansky-Pudlak syndrome type 5.
European journal of haematology - 1 Apr 2008
Korswagen Lindy-Anne, Huizing Marjan, Simsek Suat, Janssen Jeroen J W M, Zweegman Sonja
Abstract excerpt
The Hermansky-Pudlak syndrome (HPS) is a rare genetically heterogeneous autosomal recessive disorder, characterized by tyrosinase-positive oculocutaneous albinism, platelet dysfunction and lysosomal ceroid lipofuscin storage. This is caused by defects in lysosome-related organelles. In humans eight different types of the syndrome are known, of which a short overview is given. The clinical features and a novel...
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