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

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. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.

SUBMITTER: Wetzel-Strong SE

PROVIDER: S-EPMC5167654 | biostudies-other | 2017 Jan

REPOSITORIES: biostudies-other

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

Wetzel-Strong Sarah E SE Detter Matthew R MR Marchuk Douglas A DA

The Journal of pathology 20161204 2

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 va ...[more]

PMID: 27859310

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