Rare hereditary COL4A3/COL4A4 variants may be mistaken for familial focal segmental glomerulosclerosis

Focal segmental glomerulosclerosis (FSGS) is a histological lesion with many causes including inherited genetic defects with significant proteinuria being the predominant clinical finding at presentation. Mutations in COL4A3 and COL4A4 are known to cause Alport syndrome, thin basement membrane nephr...

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Bibliografiske detaljer
Udgivet i:Kidney Int
Main Authors: Malone, Andrew F, Phelan, Paul J, Hall, Gentzon, Cetincelik, Umran, Homstad, Alison, Alonso, Andrea, Jiang, Ruiji, Lindsey, Thomas, Wu, Guanghong, Sparks, Matthew A, Smith, Stephen R, Webb, Nicholas J A, Kalra, Philip, Adeyemo, Adebowale, Shaw, Andrey S, Conlon, Peter J, Jennette, J Charles, Howell, David N, Winn, Michelle P, Gbadegesin, Rasheed A
Format: Artigo
Sprog:Inglês
Udgivet: 2014
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4245465/
https://ncbi.nlm.nih.gov/pubmed/25229338
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ki.2014.305
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