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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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| Publicat a: | Front Pediatr |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Frontiers Media S.A.
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6529843/ https://ncbi.nlm.nih.gov/pubmed/31157196 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00199 |
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