Article
Hermansky-Pudlak syndrome. Overview of clinical and molecular features and case report of a new HPS-1 variant.
Hamostaseologie - 1 Jan 2014
Sánchez-Guiu I, Torregrosa J M, Velasco F, Antón A I, Lozano M L, Vicente V, Rivera J
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a rare, autosomal recessive disorder affecting lysosome-related organelles (LRO), including dense platelet granules. HPS causes oculocutaneous hypopigmentation, bleeding diathesis and granulomatous colitis or pulmonary fibrosis. To date, there is no curative treatment and the clinical management depends on the severity of symptoms. A prompt diagnosis of HPS patients could...
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