| Literature DB >> 27859310 |
Sarah E Wetzel-Strong1, Matthew R Detter1,2, Douglas A Marchuk1.
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.Entities:
Keywords: CADASIL/CARASIL; Klippel-Trenaunay syndrome; Loeys-Dietz syndrome; Parkes Weber syndrome; Sturge-Weber syndrome; arterial tortuosity syndrome; blue rubber bleb naevus syndrome; capillary malformation-arteriovenous malformation; cerebral cavernous malformation; glomuvenous malformations; hereditary haemorrhagic telangiectasia; moyamoya disease; venous malformations
Mesh：
Substances：
Year: 2016 PMID： 27859310 PMCID： PMC5167654 DOI： 10.1002/path.4844
Source DB: PubMed Journal: J Pathol ISSN： 0022-3417 Impact factor: 7.996