Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 15 Aug 2023

Zhao Xue, Jiang Li-Jun, Rong Zan-Hua, Dou Zhi-Yan, Su Qing-Xiao, Liang Yu-Heng, Qi Xing-Jie

Abstract excerpt

OBJECTIVES: To improve the understanding of the clinical phenotypes and genetic characteristics of nephronophthisis (NPHP) and related syndromes in children. METHODS: A retrospective analysis was performed on the medical data of eight children with NPHP and related syndromes who were diagnosed and treated in the Department of Pediatrics of the Second Hospital of Hebei Medical University, from January 2018 to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Kidney Diseases, Cystic

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

Share to Mutation

Share to Phenotype

Share to Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 37668031
DOI: 10.7499/j.issn.1008-8830.2303020
PMCID: PMC10484077

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical phenotype characteristics and genetic analysis in children with nephronophthisis and related syndromes caused by different gene mutations].PMID 37668031Read ↗

Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort.Semantic proximity Read ↗

Genetic Architecture of Childhood Kidney and Urological Diseases in ChinaSemantic proximity Read ↗

Genotype and phenotype analysis and transplantation strategy in children with kidney failure caused by NPHP.Semantic proximity Read ↗

Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy.Semantic proximity Read ↗

Comprehensive genetic analysis using next-generation sequencing for the diagnosis of nephronophthisis-related ciliopathies in the Japanese population.Semantic proximity Read ↗

Genetic spectrum of renal disease for 1001 Chinese children based on a multicenter registration systemSemantic proximity Read ↗

Nephronophthisis: A review of genotype-phenotype correlation.Semantic proximity Read ↗

[Clinical phenotype analysis of 6 cases of TTC21B gene related nephronophthisis].Semantic proximity Read ↗

Genetic causes of nephrolithiasis and nephrocalcinosis in a pediatric population in Saudi Arabia.Semantic proximity Read ↗

Genetic spectrum of CAKUT and risk factors for kidney failure: a pediatric multicenter cohort studySemantic proximity Read ↗

NephronophthisisSemantic proximity Read ↗

Phenotypic Spectrum of Children with Nephronophthisis and Related Ciliopathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.