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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Veröffentlicht in:Am J Med Genet A
Hauptverfasser: 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
Sprache:Inglês
Veröffentlicht: 2011
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Article
Online Zugang: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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