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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experience

16 Mar 2023

Abstract excerpt

Individuals with congenital anomalies of the kidney and urinary tract (CAKUT) show a broad spectrum of malformations. CAKUT can occur in an isolated fashion or as part of a syndromic disorder and can lead to end-stage kidney failure. A monogenic cause can be identified in ~12% of affected individuals. This study investigated a single-center CAKUT cohort analyzed by exome sequencing (ES). Emphasis was placed on...

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Epigenetics and DNA Methylation
Renal and related cancers
Renal cell carcinoma treatment

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36922632
DOI: 10.1038/s41431-023-01331-x

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Exome sequencing in individuals with congenital anomalies of the kidney and urinary tract (CAKUT): a single-center experiencePMID 36922632Read ↗

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