Case Report: Wide spectrum of SALL1 variants—a rare cause of pediatric chronic kidney disease

IntroductionGenetic causes of chronic kidney disease present a diverse group. Some of them are associated with extrarenal malformations, especially ear anomalies. Genetic diagnosis is essential to confirm the diagnosis, search for additional potential manifestations, and predict the prognosis.Case p...

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Main Authors: Martina Filipič, Špela Stangler Herodež, Mirjam Močnik, Sonja Golob Jančič, Nataša Marčun Varda, Danijela Krgović
פורמט: Artigo
שפה:Inglês
יצא לאור: Frontiers Media S.A. 2025-09-01
סדרה:Frontiers in Pediatrics
נושאים:
chronic kidney disease
child
genetics
rare variants
Townes-Brocks syndrome
גישה מקוונת:https://www.frontiersin.org/articles/10.3389/fped.2025.1649707/full
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