Article

The Phenotypic Spectrum of<i>COL4A3</i>Heterozygotes

2023-04-17

Abstract excerpt

Most data on Alport Syndrome (AS) due to COL4A3 are limited to families with autosomal recessive AS or severe manifestations such as focal segmental glomerulosclerosis (FSGS). Using data from 174,418 participants in the Geisinger MyCode/DiscovEHR study, an unselected health system-based cohort with whole exome sequencing, we identified 403 participants (0.2%) who were heterozygous for likely pathogenic COL4A3 vari...

Topics

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

Identifiers and source

Literature Corpus work: fc02a099-77bb-535b-ace3-aa2d12f608d8
DOI: 10.1101/2023.04.11.23288298

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The Phenotypic Spectrum of<i>COL4A3</i>HeterozygotesDOI 10.1101/2023.04.11.23288298Read

The Phenotypic Spectrum of COL4A3 HeterozygotesSemantic proximity Read

Genotype-first analysis in an unselected health system-based population reveals variable phenotypic severity of<i>COL4A5</i>variantsSemantic proximity Read

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

Population-based studies reveal an additive role of type IV collagen variants in hematuria and albuminuria.Semantic proximity Read

Genotype-phenotype correlations for COL4A3-COL4A5 variants resulting in Gly substitutions in Alport syndrome.Semantic proximity Read

Heterozygous COL4A3/COL4A4 mutations: the hidden part of the iceberg?Semantic proximity Read

Detection of Alport gene variants in children and young people with persistent haematuriaSemantic proximity Read

Burden of Potential Kidney Failure in Apparently Asymptomatic IndividualsSemantic proximity Read

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

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

Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.Semantic proximity Read

Three Novel Heterozygous COL4A4 Mutations Result in Three Different Collagen Type IV Kidney Disease Phenotypes.Semantic proximity Read