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A Novel CLCN5 Splice Site Mutation in a Boy with Incomplete Phenotype of Dent Disease
Dent disease is a rare X-linked renal proximal tubulopathy presenting with low-molecular-weight proteinuria (LMWP), hypercalciuria, and nephrocalcinosis, other signs of incomplete renal Fanconi syndrome, and renal failure. Early identification of patients who harbor disease-associated mutations is i...
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| Veröffentlicht in: | J Pediatr Genet |
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| Hauptverfasser: | , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Georg Thieme Verlag KG
2019
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| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6824900/ https://ncbi.nlm.nih.gov/pubmed/31687264 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0039-1692172 |
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