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Many Genes—One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders
Nephronophthisis (NPHP) is a renal ciliopathy and an autosomal recessive cause of cystic kidney disease, renal fibrosis, and end-stage renal failure, affecting children and young adults. Molecular genetic studies have identified more than 20 genes underlying this disorder, whose protein products are...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5770800/ https://www.ncbi.nlm.nih.gov/pubmed/29379777 http://dx.doi.org/10.3389/fped.2017.00287 |