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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Udgivet i:Am J Med Genet A
Main Authors: Kamath, Binita M., Podkameni, Gisele, Hutchinson, Anne L., Leonard, Laura D., Gerfen, Jennifer, Krantz, Ian D., Piccoli, David A., Spinner, Nancy B., Loomes, Kathleen M., Meyers, Kevin
Format: Artigo
Sprog:Inglês
Udgivet: 2011
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Article
Online adgang: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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