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- Jeffrey Spencer and Sally Rosengren.
- Obstetrics and Gynecology, University of Connecticut Health Center, Farmington, Connecticut, USA. vahan1000@yahoo.com
- Am J Perinatol. 2009 Oct 1; 26 (9): 617-9.
AbstractHermansky-Pudlak syndrome (HPS) is a multisystem, autosomal-recessive disorder characterized by oculocutaneous albinism, platelet storage pool deficiency resulting in prolonged bleeding, and ceroid lipofuscin deposition. Affected individuals may suffer from blindness, pulmonary fibrosis, colitis, and bleeding diathesis. Although it has been reported in various ethnic groups, HPS is most common in individuals from the northwest corner of Puerto Rico, with a carrier incidence of 1 in 21.Thieme Medical Publishers.
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