Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease

Alagille syndrome (ALGS) is a multisystem condition characterized by cholestasis and bile duct paucity on liver biopsy and variable involvement of the heart, skeleton, eyes, kidneys, and face and caused by pathogenic variants in the JAG1 or NOTCH2 gene. The variable expressivity of the clinical phen...

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Detalles Bibliográficos
Autores principales: Semenova, Natalia, Kamenets, Elena, Annenkova, Eleonora, Marakhonov, Andrey, Gusarova, Elena, Demina, Nina, Guseva, Daria, Anisimova, Inga, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana, Zakharova, Ekaterina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10380973/
https://www.ncbi.nlm.nih.gov/pubmed/37511516
http://dx.doi.org/10.3390/ijms241411758

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10380973/
https://www.ncbi.nlm.nih.gov/pubmed/37511516
http://dx.doi.org/10.3390/ijms241411758

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