A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family

We report a consanguineous family from Saudi Arabia with three affected children presenting with infantile nephrotic syndrome. In order to provide a molecular diagnosis, a genome-wide SNP analysis of the affected patients was performed. We identified a region of homozygosity on chromosome 1, contain...

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Detalles Bibliográficos
Autores principales: Al-Hamed, Mohamed, Sayer, John A., Al-Hassoun, Ibrahim, Aldahmesh, Mohamed A., Meyer, Brian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421432/
https://www.ncbi.nlm.nih.gov/pubmed/25949463
http://dx.doi.org/10.1093/ndtplus/sfq149

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421432/
https://www.ncbi.nlm.nih.gov/pubmed/25949463
http://dx.doi.org/10.1093/ndtplus/sfq149

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