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Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.

Molecular biology reports - 14 May 2026

Ammar Tamer H A, Ahmed Heba Mostafa, Mohammed Eman E A, El-Hariri Hazem Mohamed, Abdelaleem Alice, Thomas Manal M

Abstract excerpt

BACKGROUND: Congenital abnormalities of the kidney and urinary tract (CAKUT) are the leading cause of pediatric end-stage renal disease, affecting 3-6 per 1,000 live births. Genetic mutations underlie approximately 30% of cases, necessitating next-generation sequencing for precise diagnosis. AIMS: This study aims to identify the genetic etiology of CAKUT within a cohort of ten Egyptian patients (mean age...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 42132966
DOI: 10.1007/s11033-026-11893-w

Genes

RIT1
CLCNKB
COL4A3
FRAS1
PKD1
PKHD1
REN
WNT9B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Clinical and Molecular characteristics of kidney and urinary tract congenital anomalies in a cohort of Egyptian patients using whole-exome sequencing.PMID 42132966Read ↗

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