Characterization of the hepatosplenic and portal venous findings in patients with Proteus syndrome

Proteus syndrome (PS) is a rare disorder caused by a mosaic AKT1 variant that comprises patchy overgrowth of tissues derived from all three germinal layers affecting multiple viscera. We sought to delineate the extent of hepatoportal manifestations in patients with PS. We identified patients with PS...

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Pubblicato in:Am J Med Genet A
Autori principali: Takyar, Varun, Khattar, Divya, Ling, Alexander, Patel, Rachna, Sapp, Julie C., Kim, Sun A., Auh, Sungyoung, Biesecker, Leslie G., Keppler-Noreuil, Kim M., Heller, Theo
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2018
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8020299/
https://ncbi.nlm.nih.gov/pubmed/30346092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40636
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