Article
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease.
International journal of molecular sciences - 21 Jul 2023
Semenova Natalia, Kamenets Elena, Annenkova Eleonora, Marakhonov Andrey, Gusarova Elena, Demina Nina, Guseva Daria, Anisimova Inga, Degtyareva Anna, Taran Natalia, Strokova Tatiana, Zakharova Ekaterina
Abstract excerpt
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 phenotype and the lack of genotype-phenotype correlations lead to significant diagnostic difficulties. Here we present...
Topics
- Humans
- Alagille Syndrome
- Cholestasis
- Mutation
- Mutation, Missense
- Phenotype
- Jagged-1 Protein