Proteus syndrome
Definition:
References:
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[1]. Gozde Akgumus, et al. Overgrowth Syndromes Caused by Somatic Variants in the Phosphatidylinositol 3-Kinase/AKT/Mammalian Target of Rapamycin Pathway. J Mol Diagn. 2017 Jul;19(4):487-497. [Content Brief]
[2]. H R Wiedemann, et al. The proteus syndrome. Partial gigantism of the hands and/or feet, nevi, hemihypertrophy, subcutaneous tumors, macrocephaly or other skull anomalies and possible accelerated growth and visceral affections. Eur J Pediatr. 1983 Mar;140(1):5-12. [Content Brief]
[3]. Joyce T Turner, et al. Reassessment of the Proteus syndrome literature: application of diagnostic criteria to published cases. Am J Med Genet A. 2004 Oct 1;130A(2):111-22. [Content Brief]
[4]. M Michael Cohen Jr, et al. Proteus syndrome review: molecular, clinical, and pathologic features. Clin Genet. 2014 Feb;85(2):111-9. [Content Brief]
[5]. Marjorie J Lindhurst, et al. A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 2011 Aug 18;365(7):611-9. [Content Brief]
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