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A new case of severe hemophilia and Moyamoya (SHAM) syndrome

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  1. Yamashita M, Oka K, Tanaka K. Histopathology of the brain vascular network in moyamoya disease. Stroke. 1983;14(1):50–58.
  2. Hervé D, Touraine P, Verloes A, et al. A hereditary moyamoya syndrome with multisystemic manifestations. Neurology. 2010;75(3):259–264.
  3. Miskinyte S, Butler MG, Hervé D, et al. Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya. Am J Hum Genet. 2011;88(6):718–728.
  4. Janczar S, Fogtman A, Koblowska M, et al. Novel severe hemophilia A and moya-moya (SHAM) syndrome caused by Xq28 deletions encompassing F8 and BRCC3 genes. Blood. 2014;123(25):4002–4004.
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Dr. Bilancia is a clinical cytogenetics and molecular genetics fellow, Dr. Varma is a molecular genetic pathology fellow, and Dr. Aggarwal is an assistant professor of pathology and cell biology—all in the Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY.

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