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A step-by-step, multidisciplinary strategy to maximize the yield of genetic testing in pediatric patients with chronic kidney diseases.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2024

Caliment Ancuta, Van Reeth Olil, Hougardy Charlotte, Dahan Karin, Niel Olivier

Abstract excerpt

BACKGROUND: The use of genetic testing in pediatric patients with chronic kidney diseases (CKD) has increased exponentially in the past few years, particularly with the emergence of novel sequencing techniques. However, the genetic yield remains unexpectedly low in nephrology, with an impact on diagnosis, prognosis and treatment. Moreover, the increasing diversity of genetic testing possibilities can be seen as...

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PMID: 38316682
DOI: 10.1007/s00467-024-06299-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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