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Article

Genetic analysis of congenital unilateral renal agenesis in children based on next-generation sequencing.

Pediatric research - 1 Jan 2025

Yang Huiru, Zhang Jingzhi, Tang Yao, Zhong Qiang, Qian Wen, Wang Zhengrong, Zhou Zunlun, Zhang Zulong, Pan Wei

Abstract excerpt

BACKGROUND: Congenital unilateral renal agenesis (URA) is a kind of rare birth defect during fetal development with varies clinical phenotypes. The pathogenesis and the relationship between gene and phenotype are still unclear. METHODS: Ten URA fetuses were followed up after birth using postnatal renal ultrasound examination to confirm the diagnosis with nine children were URA and one was Renal Ectopy (RE). Trio-...

Read the complete abstract on PubMed

Topics

Humans
Kidney
Female
Male
Congenital Abnormalities
Kidney Diseases
High-Throughput Nucleotide Sequencing

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Child

DNA-Binding Proteins

Phenotype

Infant, Newborn

DNA Helicases

Solitary Kidney

Child, Preschool

Adaptor Proteins, Signal Transducing

DNA Copy Number Variations

Genetic Testing

Infant

Source

Open in PubMed Open full text

Identifiers

PMID: 38849481
DOI: 10.1038/s41390-024-03178-4
PMCID: PMC11798820

Genes

CHD7
PROKR2
NRIP1
CS
IHH

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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