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New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature
BACKGROUND: We herein report a 3-year-old boy presented with chronic kidney disease (CKD) due to PAX2 missense mutation (C to G transversion at position 418 in exon 4). CASE PRESENTATION: He attended our clinic with a 3-month history of foamy urine. Upon examination, he had reduced estimated glomeru...
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| Publicado no: | BMC Nephrol |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6151052/ https://ncbi.nlm.nih.gov/pubmed/30241513 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12882-018-1044-9 |
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