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Characterization of Thrombosis in Patients with Proteus Syndrome

Patients with overgrowth and complex vascular malformation syndromes, including Proteus syndrome have an increased risk of thromboembolism. Proteus syndrome is a mosaic, progressive overgrowth disorder involving vasculature, skin, and skeleton, and caused by a somatic activating mutation in AKT1. We...

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Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: Keppler-Noreuil, Kim M., Lozier, Jay N., Sapp, Julie C., Biesecker, Leslie G.
Formato: Artigo
Idioma:Inglês
Publicado em: 2017
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5592090/
https://ncbi.nlm.nih.gov/pubmed/28627093
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38311
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