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Prenatal and preimplantation genetic testing for monogenic kidney disorders.

Kidney international - 1 Feb 2025

Knoers Nine V A M

Abstract excerpt

In recent years, advances in genetic sequencing techniques and in the analysis of sequencing data have significantly improved our ability to diagnose genetic kidney diseases. Identification of the disease-causing genetic variant(s) is crucial not only for prognostication and personalized management, but also for providing genetic counseling and guiding family planning decisions. It is particularly important that...

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PMID: 39477068
DOI: 10.1016/j.kint.2024.06.031

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