Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.

@article{Miskinyte2011LossOB,
  title={Loss of BRCC3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic moyamoya.},
  author={Snaigune Miskinyte and Matthew G. Butler and Dominique Herv{\'e} and Catherine Sarret and Marc Nicolino and Jacob D. Petralia and Françoise Bergametti and Minh Arnould and Van Nam Pham and Aniket V Gore and Konstantinos M Spengos and Steven Gazal and France Woimant and G K Steinberg and Brant M Weinstein and Elisabeth Tournier-Lasserve},
  journal={American journal of human genetics},
  year={2011},
  volume={88 6},
  pages={
          718-728
        }
}
Moyamoya is a cerebrovascular angiopathy characterized by a progressive stenosis of the terminal part of the intracranial carotid arteries and the compensatory development of abnormal and fragile collateral vessels, also called moyamoya vessels, leading to ischemic and hemorrhagic stroke. Moyamoya angiopathy can either be the sole manifestation of the disease (moyamoya disease) or be associated with various conditions, including neurofibromatosis, Down syndrome, TAAD (autosomal-dominant… CONTINUE READING

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