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      The pathobiology of vascular malformations: insights from human and model organism genetics

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          Abstract

          Vascular malformations may arise in any of the vascular beds present in the human body. These lesions vary in location, type, and clinical severity of the phenotype. In recent years, the genetic basis of several vascular malformations has been elucidated. This review will consider how the identification of the genetic factors contributing to different vascular malformations, with subsequent functional studies in animal models, has provided a better understanding of these factors that maintain vascular integrity in vascular beds, as well as their role in the pathogenesis of vascular malformations.

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          Author and article information

          Journal
          0204634
          5121
          J Pathol
          J. Pathol.
          The Journal of pathology
          0022-3417
          1096-9896
          22 November 2016
          04 December 2016
          January 2017
          01 January 2018
          : 241
          : 2
          : 281-293
          Affiliations
          [1 ]Department of Molecular Genetics and Microbiology, Duke University School of Medicine, Durham, North Carolina 27710
          [2 ]Medical Scientist Training Program, Duke University School of Medicine, Durham, North Carolina 27710
          Author notes
          Correspondence to: Douglas A. Marchuk, Department of Molecular Genetics and Microbiology Duke University School of Medicine, 265 CARL Building, Box 3175 DUMC, Durham, North Carolina 27710, USA. Phone: (919) 684-1945. douglas.marchuk@ 123456duke.edu
          [†]

          equal contribution

          Article
          PMC5167654 PMC5167654 5167654 nihpa830308
          10.1002/path.4844
          5167654
          27859310
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          Article

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