Article
Intestinal disease in Hermansky-Pudlak syndrome: occurrence of colitis and relation to genotype.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association - 1 Jan 2006
Hussain Nadeem, Quezado Martha, Huizing Marjan, Geho David, White James G, Gahl William, Mannon Peter
Abstract excerpt
BACKGROUND & AIMS: Hermansky-Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by oculocutaneous albinism and platelet dysfunction, results from mutations in 1 of at least 7 different genes. Some patients develop a fatal pulmonary fibrosis and others a disabling colitis. This study aimed to document the occurrence of colitis among HPS patients, characterize gastrointestinal tract...
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