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Renal Anomalies in Alagille Syndrome: A Disease-Defining Feature
Alagille syndrome (ALGS) is an autosomal dominant condition, primarily caused by mutations in JAGGED1. ALGS is defined by cholestatic liver disease, cardiac disease and involvement of the face, skeleton and eyes with variable expression of these features. Renal involvement has been reported though n...
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| Publicado no: | Am J Med Genet A |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4511708/ https://ncbi.nlm.nih.gov/pubmed/22105858 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.34369 |
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