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A novel mutation of congenital nephrotic syndrome in a Slovenian child eventually receiving a renal transplant
Congenital nephrotic syndrome (CNS) is a rare disease defined as heavy proteinuria, hypoalbuminemia, hyperlipidemia, and edema presenting in the first three months of life. It is most commonly caused by mutations in the NPHS1 gene associated with nephrotic syndrome type 1, also known as Finnish-type...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Croatian Medical Schools
2021
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107997/ https://www.ncbi.nlm.nih.gov/pubmed/33938658 http://dx.doi.org/10.3325/cmj.2021.62.187 |