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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Hlavní autoři:	Martina Filipič, Špela Stangler Herodež, Mirjam Močnik, Sonja Golob Jančič, Nataša Marčun Varda, Danijela Krgović
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2025-09-01
Edice:	Frontiers in Pediatrics
Témata:	chronic kidney disease child genetics rare variants Townes-Brocks syndrome
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fped.2025.1649707/full
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