Yüklüyor......

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...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Clin Med Insights Pediatr
Asıl Yazarlar: Forero-Delgadillo, Jessica Maria, Ochoa, Vanessa, Duque, Natalia, Restrepo, Jaime Manuel, Londoño, Hernando, Nastasi-Catanese, Jose Antonio, Pachajoa, Harry
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: SAGE Publications 2021
Konular:
Online Erişim: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
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!