Alagille syndrome and risk for hepatocellular carcinoma: Need for increased surveillance in adults with mild liver phenotypes

Alagille syndrome (ALGS) is a multisystem autosomal dominant developmental disorder caused predominantly by pathogenic variants in JAGGED1 (JAG1), and also by pathogenic variants in NOTCH2 in a much smaller number of individuals. Clinical presentation is highly variable and includes liver, heart, ey...

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Publicado en:Am J Med Genet A
Autores principales: Schindler, Emma A., Gilbert, Melissa A., Piccoli, David A., Spinner, Nancy B., Krantz, Ian D., Loomes, Kathleen M.
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Inc. 2020
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7898517/
https://ncbi.nlm.nih.gov/pubmed/33369123
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.62028
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