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Xu, R. Proteus Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/5498 (accessed on 21 September 2026).
Xu R. Proteus Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/5498. Accessed September 21, 2026.
Xu, Rita. "Proteus Syndrome" Encyclopedia, https://encyclopedia.pub/entry/5498 (accessed September 21, 2026).
Xu, R. (2020, December 24). Proteus Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/5498
Xu, Rita. "Proteus Syndrome." Encyclopedia. Web. 24 December, 2020.
Proteus Syndrome
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Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with Proteus syndrome have few or no signs of the condition. Overgrowth becomes apparent between the ages of 6 and 18 months and gets more severe with age.

genetic conditions

References

  1. Biesecker L. The challenges of Proteus syndrome: diagnosis and management. EurJ Hum Genet. 2006 Nov;14(11):1151-7.
  2. Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL,Cohen MM Jr. Proteus syndrome: diagnostic criteria, differential diagnosis, andpatient evaluation. Am J Med Genet. 1999 Jun 11;84(5):389-95. Review.
  3. Cohen MM Jr, Turner JT, Biesecker LG. Proteus syndrome: misdiagnosis with PTENmutations. Am J Med Genet A. 2003 Nov 1;122A(4):323-4.
  4. Cohen MM Jr. Proteus syndrome: an update. Am J Med Genet C Semin Med Genet.2005 Aug 15;137C(1):38-52.
  5. Lindhurst MJ, Sapp JC, Teer JK, Johnston JJ, Finn EM, Peters K, Turner J,Cannons JL, Bick D, Blakemore L, Blumhorst C, Brockmann K, Calder P, Cherman N,Deardorff MA, Everman DB, Golas G, Greenstein RM, Kato BM, Keppler-Noreuil KM,Kuznetsov SA, Miyamoto RT, Newman K, Ng D, O'Brien K, Rothenberg S,Schwartzentruber DJ, Singhal V, Tirabosco R, Upton J, Wientroub S, Zackai EH,Hoag K, Whitewood-Neal T, Robey PG, Schwartzberg PL, Darling TN, Tosi LL,Mullikin JC, Biesecker LG. A mosaic activating mutation in AKT1 associated withthe Proteus syndrome. N Engl J Med. 2011 Aug 18;365(7):611-9. doi:10.1056/NEJMoa1104017.
  6. Turner JT, Cohen MM Jr, Biesecker LG. Reassessment of the Proteus syndromeliterature: application of diagnostic criteria to published cases. Am J Med GenetA. 2004 Oct 1;130A(2):111-22. Review.
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Update Date: 24 Dec 2020
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