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Ileal Crohn's disease in a woman with Hermansky-Pudlak syndrome

✍ Scribed by Antoine De Leusse; Evelyne Dupuy; Marjan Huizing; Claire Danel; Guy Meyer; Raymond Jian; Philippe Marteau

Book ID
114251065
Publisher
Masson Editeur
Year
2006
Tongue
French
Weight
298 KB
Volume
30
Category
Article
ISSN
0399-8320

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## Abstract Hermansky–Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis. Six human genes __HPS1__, __ADB3A__, __HPS3__,