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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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Detalhes bibliográficos
Publicado no:Clin Med Insights Pediatr
Main Authors: Forero-Delgadillo, Jessica Maria, Ochoa, Vanessa, Duque, Natalia, Restrepo, Jaime Manuel, Londoño, Hernando, Nastasi-Catanese, Jose Antonio, Pachajoa, Harry
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2021
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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