Article
Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.
The Journal of investigative dermatology - 1 Dec 2011
Carmona-Rivera Carmelo, Golas Gretchen, Hess Richard A, Cardillo Nicholas D, Martin Elijah H, O'Brien Kevin, Tsilou Ekaterini, Gochuico Bernadette R, White James G, Huizing Marjan, Gahl William A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is an autosomal recessive condition characterized by a bleeding diathesis and hypopigmentation of the skin, hair, and eyes. Some HPS patients develop other complications such as granulomatous colitis and/or fatal pulmonary fibrosis. Eight genes have been associated with this condition, resulting in subtypes HPS-1 through HPS-8. The HPS gene products are involved in the biogenesis...
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