Alagille Syndrome
Alagille Syndrome
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DOI：
10.1016/j.cld.2018.06.001
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发表时间：
2018-11-01
影响因子：
5.1
通讯作者：
Loomes, Kathleen M.
中科院分区：
文献类型：
--
作者：
Mitchell, Ellen;Gilbert, Melissa;Loomes, Kathleen M.
Alagille syndrome is a complex multisystem autosomal dominant disorder with a wide variability in penetrance of clinical features. Most patients have pathogenic mutations in either the JAG1 gene, encoding a Notch pathway ligand, or the receptor NOTCH2. No genotype-phenotype correlations have been found in any organ system. Liver disease is a major cause of morbidity in this population, whereas cardiac and vascular involvement accounts for most of the mortality. Current therapies are supportive, but the future is promising for the development of targeted interventions to augment Notch pathway signaling in involved tissues.
