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

• Main Authors: Sakura Kawahara (Author), Kazuo Imagawa (Author), Shusuke Takeuchi (Author), Tomoya Iwasaki (Author), Yuki Okada (Author), Yuri Nakamura (Author), Shogo Saito (Author), Takato Sasaki (Author), Kouji Masumoto (Author), Hidetoshi Takada (Author)
• Format: Book
• Published: Elsevier, 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...