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- W23095836 endingPage "778" @default.
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- W23095836 abstract "Alagille syndrome was described more than 35 years ago as a genetic entity characterized by five major features: chronic cholestasis resulting from paucity of interlobular bile ducts, peripheral pulmonary stenosis, butterflylike vertebral arch defect, posterior embryotoxon, and peculiar facies. Recently, JAGGED1 has been identified as a responsible gene by demonstration of mutations in AGS patients. Studies of the JAGGED1 expression pattern demonstrate that minor features and almost all the elements in the long list of manifestations described in AGS patients are not coincidental. This finding suggests that the definition of AGS may be reconsidered in the light of JAGGED1 mutations." @default.
- W23095836 created "2016-06-24" @default.
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- W23095836 date "2000-11-01" @default.
- W23095836 modified "2023-10-17" @default.
- W23095836 title "ALAGILLE SYNDROME" @default.
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- W23095836 doi "https://doi.org/10.1016/s1089-3261(05)70140-9" @default.
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