Missense Variants in <i>GFRA1</i> and <i>NPNT</i> Are Associated with Congenital Anomalies of the Kidney and Urinary Tract

Missense Variants in <i>GFRA1</i> and <i>NPNT</i> Are Associated with Congenital Anomalies of the Kidney and Urinary Tract

The use of next-generation sequencing (NGS) has helped in identifying many genes that cause congenital anomalies of the kidney and urinary tract (CAKUT). Bilateral renal agenesis (BRA) is the most severe presentation of CAKUT, and its association with autosomal recessively inherited genes is expandi...

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Bibliographic Details
Main Authors: Mohamed H. Al-Hamed, John A. Sayer, Nada Alsahan, Noel Edwards, Wafaa Ali, Maha Tulbah, Faiqa Imtiaz
Format: Article
Language:English
Published: MDPI AG 2022-09-01
Series:Genes
Subjects:
CAKUT
renal agenesis
<i>GFRA1</i>
<i>NPNT</i>
prenatal exome
Online Access:https://www.mdpi.com/2073-4425/13/10/1687

Internet

https://www.mdpi.com/2073-4425/13/10/1687

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