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Updated: Jun 30, 2025

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A case of diffuse kidney hyperechogenicity in early childhood associated with biallelic PKHD1 variants

Paola Krall1,2, Víctor Faundes3, Carla Gálvez4,5

  • 1Instituto de Medicina, Facultad de Medicina, Universidad Austral de Chile, Valdivia, Chile. paola.krall@uchile.cl.

Pediatric Nephrology (Berlin, Germany)
|March 19, 2024
PubMed
Abstract

Keywords:
PKHD1Genetic counselingMedullary sponge kidneyMimicking phenotypeNephrocalcinosis

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