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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Pubblicato in:Clin Med Insights Pediatr
Autori principali: Forero-Delgadillo, Jessica Maria, Ochoa, Vanessa, Duque, Natalia, Restrepo, Jaime Manuel, Londoño, Hernando, Nastasi-Catanese, Jose Antonio, Pachajoa, Harry
Natura: Artigo
Lingua:Inglês
Pubblicazione: SAGE Publications 2021
Soggetti:
Case Report
Accesso online: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
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !

Documenti analoghi