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Alagille syndrome: pathogenesis, diagnosis and management
Alagille syndrome (ALGS), also known as arteriohepatic dysplasia, is a multisystem disorder due to defects in components of the Notch signalling pathway, most commonly due to mutation in JAG1 (ALGS type 1), but in a small proportion of cases mutation in NOTCH2 (ALGS type 2). The main clinical and pa...
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| Main Authors: | , |
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| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Nature Publishing Group
2012
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3283172/ https://ncbi.nlm.nih.gov/pubmed/21934706 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.181 |
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