Genetic causes of vascular malformations.

  title={Genetic causes of vascular malformations.},
  author={Pascal Brouillard and Miikka Vikkula},
  journal={Human molecular genetics},
  volume={16 Spec No. 2},
Vascular malformations are localized defects of vascular development. They usually affect a limited number of vessels in a restricted area of the body. Although most malformations are sporadic, inheritance is observed, enabling genetic analysis. Usually, sporadic forms present with a single lesion whereas multiple lesions are observed in familial cases. The last decade has seen unraveling of several causative genes and beginning of elucidation of the pathophysiological pathways involved in the… CONTINUE READING
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