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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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Principais autores: Sakura Kawahara, Kazuo Imagawa, Shusuke Takeuchi, Tomoya Iwasaki, Yuki Okada, Yuri Nakamura, Shogo Saito, Takato Sasaki, Kouji Masumoto, Hidetoshi Takada
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2023-07-01
coleção:Journal of Pediatric Surgery Case Reports
Assuntos:
Alagille syndrome
Biliary atresia
Case report
Kasai procedure
Neonatal cholestasis
Acesso em linha:http://www.sciencedirect.com/science/article/pii/S2213576623000842
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