Article
Hermansky-Pudlak syndrome in two African-American brothers.
American journal of medical genetics. Part A - 1 May 2009
Merideth Melissa A, Vincent Lisa M, Sparks Susan E, Hess Richard A, Manoli Irini, O'Brien Kevin J, Tsilou Ekaterina, White James G, Huizing Marjan, Gahl William A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal pulmonary fibrosis. There are eight different subtypes of HPS, each due to mutations in one of eight different genes, whose functions are thought to involve intracellular vesicle formation and trafficking. HPS has been...
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