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Schwartz-Jampel syndrome associated with von Willebrand's disease
Authors:M Kuriyama  K Shinmyozu  M Osame  M Kawahira  A Igata
Institution:(1) Third Department of Internal Medicine, Kagoshima University School of Medicine, 890 Kagoshima, Japan;(2) Department of Neurology, National Hospital of Okinawa, 901-22 Okinawa, Japan
Abstract:Summary We report a very rare case of Schwartz-Jampel syndrome associated with von Willibrand's disease. This association might be coincidental because of the different modes of inheritance of the two disorders. However, we speculate that there might be some link between the two disorders, for example in the locus of the affected gene.
Keywords:Schwartz-Jampel syndrome  von Willibrand's disease  Genetic link
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