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...

Descripción completa

Detalles Bibliográficos
Autores principales: Fischetto, Rita, Palmieri, Viviana V., Tripaldi, Maria E., Gaeta, Alberto, Michelucci, Angela, Delvecchio, Maurizio, Francavilla, Ruggiero, Giordano, Paola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529843/
https://www.ncbi.nlm.nih.gov/pubmed/31157196
http://dx.doi.org/10.3389/fped.2019.00199

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6529843/
https://www.ncbi.nlm.nih.gov/pubmed/31157196
http://dx.doi.org/10.3389/fped.2019.00199

Ejemplares similares