A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Am J Med Genet A
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!