Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1, resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity of this disorder.
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome / Tsai, Ellen A.; Gilbert, Melissa A.; Grochowski, Christopher M.; Underkoffler, Lara A.; Meng, He; Zhang, Xiaojie; Wang, Michael M.; Shitaye, Hailu; Hankenson, Kurt D.; Piccoli, David; Lin, Henry; Kamath, Binita M.; Devoto, Marcella; Spinner, Nancy B.; Loomes, Kathleen M.. - In: CMGH. - ISSN 2352-345X. - 2:5(2016), pp. 663-675.e2. [10.1016/j.jcmgh.2016.05.013]
THBS2 Is a Candidate Modifier of Liver Disease Severity in Alagille Syndrome
DEVOTO, MARCELLA;
2016
Abstract
Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1, resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity of this disorder.| File | Dimensione | Formato | |
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