Novel mutations in NOTCH2 gene in infants with neonatal cholestasis

One cause of neonatal cholestasis (NC) is paucity of intrahepatic bile ducts which can be associated with Alagille syndrome or non- syndromic. Alagille syndrome is caused by autosomal dominant mutations in the Notch signaling pathway ligand Jagged1 in 94% of patients and mutations in the NOTCH2 rece...

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Detalles Bibliográficos
Autores principales: Shaul, Eliana, Kogan-Liberman, Debora, Schuckalo, Stephanie, Jan, Dominique, Ewart, Michelle, Nguyen, Trang, Martinez, Mercedes, Ovchinsky, Nadia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: PAGEPress Scientific Publications, Pavia, Italy 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6778839/
https://www.ncbi.nlm.nih.gov/pubmed/31595186
http://dx.doi.org/10.4081/pr.2019.8206

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