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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
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 |
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