Adult-onset renal failure in a family with Alagille syndrome with proteinuria and a novel JAG1 mutation
Alagille syndrome (AGS) is an autosomal-dominant multi-organ disorder involving the liver, heart, eyes, face and skeleton. In addition, various renal abnormalities have also been reported in several cases. We describe a patient with a novel frameshift mutation in exon 12 of the JAG1 gene who present...
| Main Authors: | , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Oxford University Press
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400474/ |