Differential diagnosis of neonatal cholestasis by genetic testing: A case report

Differential diagnosis of neonatal cholestasis by genetic testing: A case report

Introduction: Alagille syndrome (ALGS) is a cholestasis disorder with multiple organ dysfunction, including heart and kidney. The causative genes of ALGS are JAG1 and NOTCH2. Dysregulation of Notch signaling leads to defects in the developmental mechanisms of the bile ducts. Sometimes extrahepatic b...

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Bibliographic Details
Main Authors: Sakura Kawahara, Kazuo Imagawa, Shusuke Takeuchi, Tomoya Iwasaki, Yuki Okada, Yuri Nakamura, Shogo Saito, Takato Sasaki, Kouji Masumoto, Hidetoshi Takada
Format: Article
Language:English
Published: Elsevier 2023-07-01
Series:Journal of Pediatric Surgery Case Reports
Subjects:
Alagille syndrome
Biliary atresia
Case report
Kasai procedure
Neonatal cholestasis
Online Access:http://www.sciencedirect.com/science/article/pii/S2213576623000842

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http://www.sciencedirect.com/science/article/pii/S2213576623000842

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