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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Vydáno v:Am J Med Genet A
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2018
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Article
On-line přístup: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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