Article

Inversion of the Frequencies of Autosomal Recessive and X-Linked Dominant Forms of Alport Syndrome in the Tunisian Population

2023-11-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Alport syndrome is defined by the co-occurrence of hematuria, renal failure, and a family history of renal failure or hematuria. Pathogenic variants in <italic>COL4A3, COL4A4</italic>, and <italic>COL4A5</italic> cause this phenotype. These genes code for the α3, α4, and α5 chains of collagen IV found in the kidneys, eyes, and cochlea. This explains the frequent...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 4159938d-fce2-50d4-be25-73a52e6c5147
DOI: 10.21203/rs.3.rs-3645854/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Inversion of the Frequencies of Autosomal Recessive and X-Linked Dominant Forms of Alport Syndrome in the Tunisian PopulationDOI 10.21203/rs.3.rs-3645854/v1Read

Genetic study of Alport syndrome in Tunisia.Semantic proximity Read

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management PerspectivesSemantic proximity Read

Clinical, histological and molecular characteristics of Alport syndrome in Chinese children.Semantic proximity Read

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

Novel Variants in COL4A3 and COL4A4 are Causes of Alport Syndrome in Rio Grande do Norte, BrazilSemantic proximity Read

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

Pseudodominant Alport syndrome caused by pathogenic homozygous and compound heterozygous COL4A3 splicing variants.Semantic proximity Read

Alport syndrome: facts and opinionsSemantic proximity Read

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

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsSemantic proximity Read

Autosomal dominant Alport's syndrome: study of a large Tunisian family.Semantic proximity Read

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.Semantic proximity Read