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New PAX2 Mutation Associated with Polycystic Kidney Disease: A Case Report
BACKGROUND: Congenital anomalies of the kidney and urinary tract (CAKUT) are the leading cause of end stage renal disease in children. Diagnosis by genetic testing has proven challenging due to its genetic and phenotypic heterogeneity, as well as incomplete penetrance. We report a case on a 16-month...
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| Publicado no: | Clin Med Insights Pediatr |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
SAGE Publications
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7940718/ https://ncbi.nlm.nih.gov/pubmed/33746522 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1179556521992354 |
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