Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.

@article{Kurek2012SomaticMA,
  title={Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome.},
  author={Kyle C. Kurek and Valerie L. Luks and Ugur M. Ayturk and Ahmad Ibrahim Alomari and Steven J. Fishman and Samantha A. Spencer and John Butler Mulliken and Margot E. Bowen and Guilherme Lopes Yamamoto and Harry P. W. Kozakewich and Matthew L Warman},
  journal={American journal of human genetics},
  year={2012},
  volume={90 6},
  pages={1108-15}
}
Congenital lipomatous overgrowth with vascular, epidermal, and skeletal anomalies (CLOVES) is a sporadically occurring, nonhereditary disorder characterized by asymmetric somatic hypertrophy and anomalies in multiple organs. We hypothesized that CLOVES syndrome would be caused by a somatic mutation arising during early embryonic development. Therefore, we employed massively parallel sequencing to search for somatic mosaic mutations in fresh, frozen, or fixed archival tissue from six affected… CONTINUE READING
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