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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...
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| Publicado no: | Korean J Pediatr |
|---|---|
| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Pediatric Society
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4644768/ https://ncbi.nlm.nih.gov/pubmed/26576184 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2015.58.10.392 |
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