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...

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Detalles Bibliográficos
Autores principales: Hayashi, Norifumi, Okuyama, Hiroshi, Matsui, Yuki, Yamaya, Hideki, Kinoshita, Eriko, Minato, Hiroshi, Niida, Yo, Yokoyama, Hitoshi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2013
Materias:
Original Contributions
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4400474/
https://www.ncbi.nlm.nih.gov/pubmed/26064488
http://dx.doi.org/10.1093/ckj/sft027

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