Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome

@article{Thiffault2004MutationAO,
  title={Mutation analysis of the tumor suppressor PTEN and the glypican 3 (GPC3) gene in patients diagnosed with Proteus syndrome},
  author={Isabelle Thiffault and Charles E. Schwartz and Vazken M. Der Kaloustian and William D. Foulkes},
  journal={American Journal of Medical Genetics Part A},
  year={2004},
  volume={130A}
}
Proteus syndrome is a complex hamartomatous disorder characterized by asymmetrical gigantism, epidermal nevi, vascular malformations, hamartomas, lipomas, and hyperostosis. Since the syndrome was first described, many hypotheses have been proposed to explain its occurrence. The most plausible is Happle's somatic mosaic hypothesis, but no somatic mutations in candidate genes have been reported to be clearly involved in Proteus syndrome. However, germ‐line PTEN mutations have been reported in… 
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Clinical overlap exists between PS and another hamartoma syndrome, Bannayan-Riley-Ruvalcaba syndrome, in which up to 60% of affected subjects are known to carry a germline mutation of the tumour suppressor gene PTEN .6 BRR also shows partial clinical overlap with Cowden syndrome.
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TLDR
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