Alagille Syndrome: A Novel Mutation in JAG1 Gene

Alagille Syndrome: A Novel Mutation in JAG1 Gene

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...

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Bibliographic Details
Main Authors: Rita Fischetto, Viviana V. Palmieri, Maria E. Tripaldi, Alberto Gaeta, Angela Michelucci, Maurizio Delvecchio, Ruggiero Francavilla, Paola Giordano
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-05-01
Series:Frontiers in Pediatrics
Subjects:
Alagille syndrome
JAG1
stop codon mutation
Next Generation Sequencing
hypertransaminasemia
Online Access:https://www.frontiersin.org/article/10.3389/fped.2019.00199/full

Internet

https://www.frontiersin.org/article/10.3389/fped.2019.00199/full

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