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Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies
BACKGROUND AND OBJECTIVES: Genetic heterogeneity and phenotypic variability are major challenges in familial nephronophthisis and related ciliopathies. To date, mutations in 20 different genes (NPHP1 to -20) have been identified causing either isolated kidney disease or complex multiorgan disorders....
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| Udgivet i: | Clin J Am Soc Nephrol |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
American Society of Nephrology
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5718263/ https://ncbi.nlm.nih.gov/pubmed/29146700 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2215/CJN.01280217 |
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