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

[COL4A5 genotypes and clinical characteristics of children with Alport syndrome].

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

Huang Wei, Liu Cui-Hua, Li Ji-Tong, Liu Yu-Jie, Li Yu-Liu, Tian Ming, Cao Guang-Hai, Zhang Shu-Feng

Abstract excerpt

OBJECTIVES: To investigate the genotypes of the pathogenic gene COL4A5 and the characteristics of clinical phenotypes in children with Alport syndrome (AS). METHODS: A retrospective analysis was performed for the genetic testing results and clinical data of 19 AS children with COL4A5 gene mutations. RESULTS: Among the 19 children with AS caused by COL4A5 gene mutations, 1 (5%) carried a new mutation of the COL4A5...

Read the complete abstract on PubMed

Topics

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

Share to Collagen Type IV
Share to Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hematuria

Share to Mutation

Share to Nephritis, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 37529956
DOI: 10.7499/j.issn.1008-8830.2303069
PMCID: PMC10414164

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[COL4A5 genotypes and clinical characteristics of children with Alport syndrome].PMID 37529956Read ↗

[Features of clinical phenotype and genotype in Alport syndrome: a monocentric study].Semantic proximity Read ↗

Identification of Novel COL4A5 Variants and Prenatal Diagnosis in Three Large FamiliesSemantic proximity Read ↗

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.Semantic proximity Read ↗

Alport syndrome and Alport kidney diseases - elucidating the disease spectrum.Semantic proximity Read ↗

Pathogenic Variants in the Genes Affected in Alport Syndrome (COL4A3-COL4A5) and Their Association With Other Kidney Conditions: A Review.Semantic proximity Read ↗

A Deeper Insight into COL4A3, COL4A4, and COL4A5 Variants and Genotype-Phenotype Correlation of a Turkish Cohort with Alport SyndromeSemantic proximity Read ↗

Four novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndrome.Semantic proximity Read ↗

Novel COL4A5 mutation in preimplantation genetic diagnosis of a patient with Alport syndromSemantic proximity Read ↗

Five novel mutations identified in the COL4A3, COL4A4 and COL4A5 genes in 10 families with Alport syndromeSemantic proximity Read ↗

Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport SyndromeSemantic proximity Read ↗

[Identification of a novel variant of COL4A5 gene in a pedigree affected with Alport syndrome].Semantic proximity Read ↗

Molecular Review of Suspected Alport Syndrome Patients—A Single-Centre ExperienceSemantic proximity Read ↗

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