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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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Detalles Bibliográficos
Autores principales:	Forero-Delgadillo, Jessica Maria, Ochoa, Vanessa, Duque, Natalia, Restrepo, Jaime Manuel, Londoño, Hernando, Nastasi-Catanese, Jose Antonio, Pachajoa, Harry
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2021
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7940718/ https://www.ncbi.nlm.nih.gov/pubmed/33746522 http://dx.doi.org/10.1177/1179556521992354

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