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Missense Variants in GFRA1 and NPNT Are Associated with Congenital Anomalies of the Kidney and Urinary Tract.

Genes - 21 Sept 2022

Al-Hamed Mohamed H, Sayer John A, Alsahan Nada, Edwards Noel, Ali Wafaa, Tulbah Maha, Imtiaz Faiqa

Abstract excerpt

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 expanding. Highly consanguineous populations can impact the detection of recessively inherited genes. Here, we report two...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36292572
DOI: 10.3390/genes13101687
PMCID: PMC9601797

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