与血管性血友病相关的施瓦茨-扬佩尔综合征。
Schwartz-Jampel syndrome associated with von Willebrand's disease.
作者信息
Kuriyama M, Shinmyozu K, Osame M, Kawahira M, Igata A
出版信息
J Neurol. 1985;232(1):49-51. doi: 10.1007/BF00314041.
PMID:3873520
Abstract
We report a very rare case of Schwartz-Jampel syndrome associated with von Willebrand'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.
摘要
我们报告了一例极为罕见的与血管性血友病相关的施瓦茨-扬佩尔综合征病例。由于这两种疾病的遗传方式不同，这种关联可能是偶然的。然而，我们推测这两种疾病之间可能存在某种联系，例如在受影响基因的位点方面。
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