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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Detaylı Bibliyografya
Yayımlandı:Am J Med Genet A
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2011
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Article
Online Erişim: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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