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Alagille syndrome and a JAG1 mutation: 41 cases of experience at a single center
PURPOSE: Alagille syndrome is a complex hereditary disorder that is associated with cardiac, hepatic, skeletal, ocular, and facial abnormalities. Mutations in the Notch signaling pathway, such as in JAG1 and NOTCH2, play a key role in embryonic development. A cardiac or hepatic presentation is a cri...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Pediatric Society
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4644768/ https://www.ncbi.nlm.nih.gov/pubmed/26576184 http://dx.doi.org/10.3345/kjp.2015.58.10.392 |