Alagille Syndrome: A Novel Mutation in JAG1 Gene

• Main Authors: Rita Fischetto (Author), Viviana V. Palmieri (Author), Maria E. Tripaldi (Author), Alberto Gaeta (Author), Angela Michelucci (Author), Maurizio Delvecchio (Author), Ruggiero Francavilla (Author), Paola Giordano (Author)
• Format: Book
• Published: Frontiers Media S.A., 2019-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Alagille syndrome is an autosomal dominant multisystem disorder with variable phenotypic penetrance, caused by heterozygous mutations in JAG1 or NOTCH2, encoding for the components of the Notch signaling pathway. In this paper, we described a novel mutation not yet reported in literature. This 3-yea...